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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: 16-259497-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=259497&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 259497,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032039.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "NM_032039.4",
"protein_id": "NP_114428.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 552,
"cds_start": 283,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399932.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032039.4"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000399932.8",
"protein_id": "ENSP00000382814.3",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 552,
"cds_start": 283,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032039.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399932.8"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000301678.7",
"protein_id": "ENSP00000301678.3",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 552,
"cds_start": 283,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301678.7"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000970193.1",
"protein_id": "ENSP00000640252.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 607,
"cds_start": 283,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970193.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872387.1",
"protein_id": "ENSP00000542446.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 599,
"cds_start": 283,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872387.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872377.1",
"protein_id": "ENSP00000542436.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 585,
"cds_start": 283,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872377.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000914331.1",
"protein_id": "ENSP00000584390.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 572,
"cds_start": 283,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914331.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000970213.1",
"protein_id": "ENSP00000640272.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 572,
"cds_start": 283,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970213.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872374.1",
"protein_id": "ENSP00000542433.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 571,
"cds_start": 283,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872374.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872414.1",
"protein_id": "ENSP00000542473.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 571,
"cds_start": 283,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872414.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872393.1",
"protein_id": "ENSP00000542452.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 564,
"cds_start": 283,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872393.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000970196.1",
"protein_id": "ENSP00000640255.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 563,
"cds_start": 283,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970196.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872391.1",
"protein_id": "ENSP00000542450.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 562,
"cds_start": 283,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872391.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000970198.1",
"protein_id": "ENSP00000640257.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 562,
"cds_start": 283,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970198.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872367.1",
"protein_id": "ENSP00000542426.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 558,
"cds_start": 283,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872367.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "NM_001284497.2",
"protein_id": "NP_001271426.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 552,
"cds_start": 283,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284497.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872370.1",
"protein_id": "ENSP00000542429.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 552,
"cds_start": 283,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872370.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872372.1",
"protein_id": "ENSP00000542431.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 552,
"cds_start": 283,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872372.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872373.1",
"protein_id": "ENSP00000542432.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 552,
"cds_start": 283,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872373.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872375.1",
"protein_id": "ENSP00000542434.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 552,
"cds_start": 283,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872375.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872376.1",
"protein_id": "ENSP00000542435.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 552,
"cds_start": 283,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872376.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Met",
"transcript": "ENST00000872380.1",
"protein_id": "ENSP00000542439.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 552,
"cds_start": 283,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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}
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}