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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: 8-91970656-A-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=91970656&ref=A&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 91970656,
"ref": "A",
"alt": "AC",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_001198679.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1dupG",
"hgvs_p": null,
"transcript": "NM_175634.3",
"protein_id": "NP_783552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7699,
"mane_select": "ENST00000523629.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175634.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1_1539+2insG",
"hgvs_p": null,
"transcript": "ENST00000523629.7",
"protein_id": "ENSP00000428543.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7699,
"mane_select": "NM_175634.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523629.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1458+1_1458+2insG",
"hgvs_p": null,
"transcript": "ENST00000396218.5",
"protein_id": "ENSP00000379520.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396218.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1458+1_1458+2insG",
"hgvs_p": null,
"transcript": "ENST00000518844.5",
"protein_id": "ENSP00000430728.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518844.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1428+1_1428+2insG",
"hgvs_p": null,
"transcript": "ENST00000360348.6",
"protein_id": "ENSP00000353504.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": null,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360348.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1428+1_1428+2insG",
"hgvs_p": null,
"transcript": "ENST00000422361.6",
"protein_id": "ENSP00000390137.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": null,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422361.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "n.*410+1_*410+2insG",
"hgvs_p": null,
"transcript": "ENST00000521751.5",
"protein_id": "ENSP00000430778.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521751.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1716+1dupG",
"hgvs_p": null,
"transcript": "NM_001198679.3",
"protein_id": "NP_001185608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": null,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198679.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1716+1_1716+2insG",
"hgvs_p": null,
"transcript": "ENST00000436581.7",
"protein_id": "ENSP00000402257.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": null,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436581.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1623+1dupG",
"hgvs_p": null,
"transcript": "NM_001395209.1",
"protein_id": "NP_001382138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1572+1dupG",
"hgvs_p": null,
"transcript": "NM_001198634.2",
"protein_id": "NP_001185563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 615,
"cds_start": null,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198634.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1572+1_1572+2insG",
"hgvs_p": null,
"transcript": "ENST00000520724.5",
"protein_id": "ENSP00000428742.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 615,
"cds_start": null,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520724.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1dupG",
"hgvs_p": null,
"transcript": "NM_001198626.2",
"protein_id": "NP_001185555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198626.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1dupG",
"hgvs_p": null,
"transcript": "NM_001198627.2",
"protein_id": "NP_001185556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198627.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1dupG",
"hgvs_p": null,
"transcript": "NM_001198628.2",
"protein_id": "NP_001185557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198628.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1dupG",
"hgvs_p": null,
"transcript": "NM_001198629.2",
"protein_id": "NP_001185558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198629.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1dupG",
"hgvs_p": null,
"transcript": "NM_001198630.2",
"protein_id": "NP_001185559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198630.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1dupG",
"hgvs_p": null,
"transcript": "NM_001198631.2",
"protein_id": "NP_001185560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 7302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198631.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1_1539+2insG",
"hgvs_p": null,
"transcript": "ENST00000517919.6",
"protein_id": "ENSP00000429506.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
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"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517919.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1_1539+2insG",
"hgvs_p": null,
"transcript": "ENST00000518954.6",
"protein_id": "ENSP00000430080.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518954.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1539+1_1539+2insG",
"hgvs_p": null,
"transcript": "ENST00000519847.6",
"protein_id": "ENSP00000430204.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519847.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
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"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1716+1dupG",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}