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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: 7-14149217-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=14149217&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 14149217,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001350705.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Gln776Lys",
"transcript": "NM_001350709.2",
"protein_id": "NP_001337638.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 803,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402815.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350709.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Gln776Lys",
"transcript": "ENST00000402815.6",
"protein_id": "ENSP00000384909.1",
"transcript_support_level": 5,
"aa_start": 776,
"aa_end": null,
"aa_length": 803,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001350709.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402815.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2329C>A",
"hgvs_p": "p.Gln777Lys",
"transcript": "NM_001350705.1",
"protein_id": "NP_001337634.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 804,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350705.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2329C>A",
"hgvs_p": "p.Gln777Lys",
"transcript": "NM_001350706.2",
"protein_id": "NP_001337635.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 804,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350706.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2329C>A",
"hgvs_p": "p.Gln777Lys",
"transcript": "ENST00000399322.7",
"protein_id": "ENSP00000382260.3",
"transcript_support_level": 5,
"aa_start": 777,
"aa_end": null,
"aa_length": 804,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399322.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2329C>A",
"hgvs_p": "p.Gln777Lys",
"transcript": "ENST00000403951.6",
"protein_id": "ENSP00000385780.2",
"transcript_support_level": 5,
"aa_start": 777,
"aa_end": null,
"aa_length": 804,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403951.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Gln776Lys",
"transcript": "NM_001350707.2",
"protein_id": "NP_001337636.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 803,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350707.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Gln776Lys",
"transcript": "NM_001350708.1",
"protein_id": "NP_001337637.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 803,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350708.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Gln776Lys",
"transcript": "ENST00000967727.1",
"protein_id": "ENSP00000637786.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 803,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967727.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2308C>A",
"hgvs_p": "p.Gln770Lys",
"transcript": "NM_001350715.1",
"protein_id": "NP_001337644.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 797,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350715.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2308C>A",
"hgvs_p": "p.Gln770Lys",
"transcript": "NM_001350716.2",
"protein_id": "NP_001337645.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 797,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350716.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2308C>A",
"hgvs_p": "p.Gln770Lys",
"transcript": "ENST00000910833.1",
"protein_id": "ENSP00000580892.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 797,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910833.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2305C>A",
"hgvs_p": "p.Gln769Lys",
"transcript": "NM_001350711.2",
"protein_id": "NP_001337640.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 796,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350711.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2305C>A",
"hgvs_p": "p.Gln769Lys",
"transcript": "NM_001350712.1",
"protein_id": "NP_001337641.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 796,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350712.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2305C>A",
"hgvs_p": "p.Gln769Lys",
"transcript": "NM_001350714.2",
"protein_id": "NP_001337643.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 796,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350714.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2305C>A",
"hgvs_p": "p.Gln769Lys",
"transcript": "ENST00000407950.5",
"protein_id": "ENSP00000385031.1",
"transcript_support_level": 5,
"aa_start": 769,
"aa_end": null,
"aa_length": 796,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407950.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2305C>A",
"hgvs_p": "p.Gln769Lys",
"transcript": "ENST00000910829.1",
"protein_id": "ENSP00000580888.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 796,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910829.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2293C>A",
"hgvs_p": "p.Gln765Lys",
"transcript": "NM_001350717.2",
"protein_id": "NP_001337646.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 792,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350717.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2293C>A",
"hgvs_p": "p.Gln765Lys",
"transcript": "NM_001350718.1",
"protein_id": "NP_001337647.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 792,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350718.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2293C>A",
"hgvs_p": "p.Gln765Lys",
"transcript": "NM_001350719.2",
"protein_id": "NP_001337648.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 792,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350719.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2293C>A",
"hgvs_p": "p.Gln765Lys",
"transcript": "ENST00000910828.1",
"protein_id": "ENSP00000580887.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 792,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910828.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKB",
"gene_hgnc_id": 2850,
"hgvs_c": "c.2293C>A",
"hgvs_p": "p.Gln765Lys",
"transcript": "ENST00000910830.1",
"protein_id": "ENSP00000580889.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 792,
"cds_start": 2293,
"cds_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}