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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: 8-144881712-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144881712&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144881712,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021061.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "NM_001109689.4",
"protein_id": "NP_001103159.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000417550.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001109689.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "ENST00000417550.7",
"protein_id": "ENSP00000393442.2",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001109689.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417550.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "ENST00000292579.11",
"protein_id": "ENSP00000292579.7",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292579.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1489G>T",
"hgvs_p": "p.Val497Leu",
"transcript": "ENST00000940320.1",
"protein_id": "ENSP00000610379.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 561,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940320.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "NM_001363098.2",
"protein_id": "NP_001350027.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363098.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "NM_001363099.2",
"protein_id": "NP_001350028.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363099.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "NM_021061.5",
"protein_id": "NP_066405.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021061.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "ENST00000862363.1",
"protein_id": "ENSP00000532421.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862363.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "ENST00000862364.1",
"protein_id": "ENSP00000532423.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862364.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "ENST00000862369.1",
"protein_id": "ENSP00000532428.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862369.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "ENST00000940315.1",
"protein_id": "ENSP00000610374.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940315.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "ENST00000940316.1",
"protein_id": "ENSP00000610375.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940316.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "ENST00000956450.1",
"protein_id": "ENSP00000626509.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956450.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "NM_001363100.2",
"protein_id": "NP_001350029.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363100.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "NM_001363101.2",
"protein_id": "NP_001350030.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363101.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "NM_001363102.2",
"protein_id": "NP_001350031.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363102.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "NM_001363103.2",
"protein_id": "NP_001350032.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363103.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "ENST00000862366.1",
"protein_id": "ENSP00000532425.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862366.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "ENST00000862371.1",
"protein_id": "ENSP00000532430.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862371.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "ENST00000862373.1",
"protein_id": "ENSP00000532431.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862373.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "ENST00000940321.1",
"protein_id": "ENSP00000610380.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940321.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1423G>T",
"hgvs_p": "p.Val475Leu",
"transcript": "NM_001363104.2",
"protein_id": "NP_001350033.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 539,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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