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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: 5-135388947-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=135388947&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 135388947,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138610.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "NM_138610.3",
"protein_id": "NP_613258.2",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 372,
"cds_start": 147,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": "ENST00000511689.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "ENST00000511689.6",
"protein_id": "ENSP00000423563.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 372,
"cds_start": 147,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": "NM_138610.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "ENST00000510038.1",
"protein_id": "ENSP00000424971.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 372,
"cds_start": 147,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "ENST00000304332.8",
"protein_id": "ENSP00000302572.4",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 371,
"cds_start": 147,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "NM_001400401.1",
"protein_id": "NP_001387330.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 372,
"cds_start": 147,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "NM_001400402.1",
"protein_id": "NP_001387331.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 372,
"cds_start": 147,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "NM_001040158.2",
"protein_id": "NP_001035248.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 371,
"cds_start": 147,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "NM_004893.3",
"protein_id": "NP_004884.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 371,
"cds_start": 147,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "NM_138609.3",
"protein_id": "NP_613075.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 369,
"cds_start": 147,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "ENST00000312469.8",
"protein_id": "ENSP00000310169.4",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 369,
"cds_start": 147,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "NM_001400403.1",
"protein_id": "NP_001387332.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 368,
"cds_start": 147,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "NM_001400404.1",
"protein_id": "NP_001387333.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 200,
"cds_start": 147,
"cds_end": null,
"cds_length": 603,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "ENST00000423969.6",
"protein_id": "ENSP00000415121.2",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 200,
"cds_start": 147,
"cds_end": null,
"cds_length": 603,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "ENST00000513210.6",
"protein_id": "ENSP00000515857.1",
"transcript_support_level": 2,
"aa_start": 49,
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"cds_start": 147,
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"cdna_start": 147,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "XM_011543730.4",
"protein_id": "XP_011542032.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 371,
"cds_start": 147,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "XM_005272134.5",
"protein_id": "XP_005272191.1",
"transcript_support_level": null,
"aa_start": 49,
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"cds_start": 147,
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"cdna_start": 350,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "XM_005272135.5",
"protein_id": "XP_005272192.1",
"transcript_support_level": null,
"aa_start": 49,
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"cds_start": 147,
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"cds_length": 597,
"cdna_start": 350,
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"cdna_length": 1248,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "XM_011543734.4",
"protein_id": "XP_011542036.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 196,
"cds_start": 147,
"cds_end": null,
"cds_length": 591,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 937,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile",
"transcript": "XM_011543735.4",
"protein_id": "XP_011542037.1",
"transcript_support_level": null,
"aa_start": 49,
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"mane_select": null,
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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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.341G>A",
"hgvs_p": null,
"transcript": "ENST00000360597.8",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.503G>A",
"hgvs_p": null,
"transcript": "ENST00000506218.1",
"protein_id": null,
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"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": 758,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.309G>A",
"hgvs_p": null,
"transcript": "ENST00000506532.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 677,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.147G>A",
"hgvs_p": null,
"transcript": "ENST00000506671.5",
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"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.170+10115G>A",
"hgvs_p": null,
"transcript": "NR_174499.1",
"protein_id": null,
"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": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"dbsnp": null,
"frequency_reference_population": null,
"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": 0.33034104108810425,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.349,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9324,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.898,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138610.3",
"gene_symbol": "MACROH2A1",
"hgnc_id": 4740,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Met49Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}