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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: 20-47249374-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=47249374&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 47249374,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000471951.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1687G>C",
"hgvs_p": "p.Val563Leu",
"transcript": "NM_001281775.3",
"protein_id": "NP_001268704.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 1234,
"cds_start": 1687,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": "ENST00000471951.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1687G>C",
"hgvs_p": "p.Val563Leu",
"transcript": "ENST00000471951.7",
"protein_id": "ENSP00000420095.2",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 1234,
"cds_start": 1687,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": "NM_001281775.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "ENST00000446994.6",
"protein_id": "ENSP00000396725.3",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 1214,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 5471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1687G>C",
"hgvs_p": "p.Val563Leu",
"transcript": "ENST00000461685.5",
"protein_id": "ENSP00000418210.1",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1687,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "ENST00000311275.11",
"protein_id": "ENSP00000312237.7",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 1186,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "ENST00000262975.8",
"protein_id": "ENSP00000262975.4",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 1168,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1687G>C",
"hgvs_p": "p.Val563Leu",
"transcript": "ENST00000352431.6",
"protein_id": "ENSP00000335537.3",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 1160,
"cds_start": 1687,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "ENST00000617418.4",
"protein_id": "ENSP00000479806.2",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1612,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "ENST00000360911.7",
"protein_id": "ENSP00000354166.3",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1612,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1471G>C",
"hgvs_p": "p.Val491Leu",
"transcript": "ENST00000540497.5",
"protein_id": "ENSP00000443086.3",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 1134,
"cds_start": 1471,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1405G>C",
"hgvs_p": "p.Val469Leu",
"transcript": "ENST00000467200.6",
"protein_id": "ENSP00000418495.2",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 1094,
"cds_start": 1405,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "ENST00000611941.4",
"protein_id": "ENSP00000482048.1",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 1087,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "ENST00000458360.6",
"protein_id": "ENSP00000392964.2",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 1054,
"cds_start": 1612,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 3729,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "n.1638G>C",
"hgvs_p": null,
"transcript": "ENST00000468376.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1708G>C",
"hgvs_p": "p.Val570Leu",
"transcript": "NM_001363714.1",
"protein_id": "NP_001350643.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1708,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1708G>C",
"hgvs_p": "p.Val570Leu",
"transcript": "ENST00000536340.5",
"protein_id": "ENSP00000439800.1",
"transcript_support_level": 2,
"aa_start": 570,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1708,
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"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 5273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "NM_001281773.3",
"protein_id": "NP_001268702.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1214,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 5352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "ENST00000355972.8",
"protein_id": "ENSP00000348246.4",
"transcript_support_level": 2,
"aa_start": 543,
"aa_end": null,
"aa_length": 1214,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 1977,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1687G>C",
"hgvs_p": "p.Val563Leu",
"transcript": "NM_001281783.3",
"protein_id": "NP_001268712.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1687G>C",
"hgvs_p": "p.Val563Leu",
"transcript": "NM_183047.4",
"protein_id": "NP_898868.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1687,
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"cdna_start": 1716,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "NM_001281772.3",
"protein_id": "NP_001268701.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1186,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "NM_001363741.2",
"protein_id": "NP_001350670.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1186,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
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}