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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: 12-22457135-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=22457135&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 22457135,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001385322.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2713G>A",
"hgvs_p": "p.Val905Met",
"transcript": "NM_001286176.2",
"protein_id": "NP_001273105.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2713,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000446597.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286176.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2713G>A",
"hgvs_p": "p.Val905Met",
"transcript": "ENST00000446597.6",
"protein_id": "ENSP00000388756.1",
"transcript_support_level": 1,
"aa_start": 905,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2713,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286176.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446597.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Val907Met",
"transcript": "ENST00000536386.5",
"protein_id": "ENSP00000439392.1",
"transcript_support_level": 1,
"aa_start": 907,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2719,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536386.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2686G>A",
"hgvs_p": "p.Val896Met",
"transcript": "ENST00000396028.6",
"protein_id": "ENSP00000379345.2",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2686,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396028.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Met",
"transcript": "ENST00000333957.8",
"protein_id": "ENSP00000334229.4",
"transcript_support_level": 1,
"aa_start": 854,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333957.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2977G>A",
"hgvs_p": "p.Val993Met",
"transcript": "ENST00000960574.1",
"protein_id": "ENSP00000630633.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2977,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960574.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Val980Met",
"transcript": "ENST00000906362.1",
"protein_id": "ENSP00000576421.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906362.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Val980Met",
"transcript": "ENST00000960568.1",
"protein_id": "ENSP00000630627.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960568.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2905G>A",
"hgvs_p": "p.Val969Met",
"transcript": "NM_001385322.1",
"protein_id": "NP_001372251.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385322.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2905G>A",
"hgvs_p": "p.Val969Met",
"transcript": "ENST00000906354.1",
"protein_id": "ENSP00000576413.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906354.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2905G>A",
"hgvs_p": "p.Val969Met",
"transcript": "ENST00000960569.1",
"protein_id": "ENSP00000630628.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960569.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2875G>A",
"hgvs_p": "p.Val959Met",
"transcript": "ENST00000960565.1",
"protein_id": "ENSP00000630624.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960565.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Val952Met",
"transcript": "ENST00000906359.1",
"protein_id": "ENSP00000576418.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906359.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2752G>A",
"hgvs_p": "p.Val918Met",
"transcript": "NM_001385323.1",
"protein_id": "NP_001372252.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385323.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2752G>A",
"hgvs_p": "p.Val918Met",
"transcript": "ENST00000906352.1",
"protein_id": "ENSP00000576411.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906352.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2752G>A",
"hgvs_p": "p.Val918Met",
"transcript": "ENST00000906358.1",
"protein_id": "ENSP00000576417.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906358.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2752G>A",
"hgvs_p": "p.Val918Met",
"transcript": "ENST00000960566.1",
"protein_id": "ENSP00000630625.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960566.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2752G>A",
"hgvs_p": "p.Val918Met",
"transcript": "ENST00000960573.1",
"protein_id": "ENSP00000630632.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960573.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2722G>A",
"hgvs_p": "p.Val908Met",
"transcript": "NM_001286175.2",
"protein_id": "NP_001273104.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286175.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2722G>A",
"hgvs_p": "p.Val908Met",
"transcript": "ENST00000545552.5",
"protein_id": "ENSP00000443204.1",
"transcript_support_level": 2,
"aa_start": 908,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545552.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Val907Met",
"transcript": "NM_001286173.2",
"protein_id": "NP_001273102.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2719,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286173.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Val907Met",
"transcript": "ENST00000960572.1",
"protein_id": "ENSP00000630631.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2719,
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