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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-135343348-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=135343348&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 135343348,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138610.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Leu289Ile",
"transcript": "NM_138610.3",
"protein_id": "NP_613258.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 372,
"cds_start": 865,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": "ENST00000511689.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Leu289Ile",
"transcript": "ENST00000511689.6",
"protein_id": "ENSP00000423563.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 372,
"cds_start": 865,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": "NM_138610.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Leu289Ile",
"transcript": "ENST00000510038.1",
"protein_id": "ENSP00000424971.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 372,
"cds_start": 865,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.862C>A",
"hgvs_p": "p.Leu288Ile",
"transcript": "ENST00000304332.8",
"protein_id": "ENSP00000302572.4",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 371,
"cds_start": 862,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.10133C>A",
"hgvs_p": null,
"transcript": "ENST00000512507.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Leu289Ile",
"transcript": "NM_001400401.1",
"protein_id": "NP_001387330.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 372,
"cds_start": 865,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Leu289Ile",
"transcript": "NM_001400402.1",
"protein_id": "NP_001387331.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 372,
"cds_start": 865,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.862C>A",
"hgvs_p": "p.Leu288Ile",
"transcript": "NM_001040158.2",
"protein_id": "NP_001035248.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 371,
"cds_start": 862,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.862C>A",
"hgvs_p": "p.Leu288Ile",
"transcript": "NM_004893.3",
"protein_id": "NP_004884.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 371,
"cds_start": 862,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.856C>A",
"hgvs_p": "p.Leu286Ile",
"transcript": "NM_138609.3",
"protein_id": "NP_613075.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 369,
"cds_start": 856,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.856C>A",
"hgvs_p": "p.Leu286Ile",
"transcript": "ENST00000312469.8",
"protein_id": "ENSP00000310169.4",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 369,
"cds_start": 856,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.853C>A",
"hgvs_p": "p.Leu285Ile",
"transcript": "NM_001400403.1",
"protein_id": "NP_001387332.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 368,
"cds_start": 853,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.Leu117Ile",
"transcript": "NM_001400404.1",
"protein_id": "NP_001387333.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 200,
"cds_start": 349,
"cds_end": null,
"cds_length": 603,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.Leu117Ile",
"transcript": "ENST00000423969.6",
"protein_id": "ENSP00000415121.2",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 200,
"cds_start": 349,
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"cds_length": 603,
"cdna_start": 550,
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"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.862C>A",
"hgvs_p": "p.Leu288Ile",
"transcript": "XM_011543730.4",
"protein_id": "XP_011542032.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 371,
"cds_start": 862,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.959C>A",
"hgvs_p": null,
"transcript": "ENST00000360597.8",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.895C>A",
"hgvs_p": null,
"transcript": "ENST00000451949.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.2640C>A",
"hgvs_p": null,
"transcript": "ENST00000505827.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2769,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.*440C>A",
"hgvs_p": null,
"transcript": "ENST00000506671.5",
"protein_id": "ENSP00000423718.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.1726C>A",
"hgvs_p": null,
"transcript": "ENST00000511494.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITX1-AS1",
"gene_hgnc_id": 48332,
"hgvs_c": "n.1142G>T",
"hgvs_p": null,
"transcript": "ENST00000624272.3",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.865C>A",
"hgvs_p": null,
"transcript": "ENST00000687629.1",
"protein_id": "ENSP00000508931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.799C>A",
"hgvs_p": null,
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"mane_plus": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "PITX1-AS1",
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"hgvs_c": "n.242+5335G>T",
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"transcript": "ENST00000555438.3",
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"transcript_support_level": 3,
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"cds_start": -4,
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}
],
"gene_symbol": "MACROH2A1",
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"dbsnp": "rs144619339",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24502268433570862,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.1752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.078,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138610.3",
"gene_symbol": "MACROH2A1",
"hgnc_id": 4740,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Leu289Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000624272.3",
"gene_symbol": "PITX1-AS1",
"hgnc_id": 48332,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1142G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}