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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: 19-4683563-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4683563&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DPP9",
"hgnc_id": 18648,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_139159.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DPP9-AS1",
"hgnc_id": 50706,
"hgvs_c": "n.834-148C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000381796.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.6632,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9629756212234497,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4273,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_139159.5",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262960.14",
"protein_coding": true,
"protein_id": "NP_631898.3",
"strand": false,
"transcript": "NM_139159.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4273,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000262960.14",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_139159.5",
"protein_coding": true,
"protein_id": "ENSP00000262960.8",
"strand": false,
"transcript": "ENST00000262960.14",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001384611.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371540.1",
"strand": false,
"transcript": "NM_001384611.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4383,
"cdna_start": 2612,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001384612.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371541.1",
"strand": false,
"transcript": "NM_001384612.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": 2377,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001384613.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371542.1",
"strand": false,
"transcript": "NM_001384613.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001384614.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371543.1",
"strand": false,
"transcript": "NM_001384614.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4220,
"cdna_start": 2449,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001384615.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371544.1",
"strand": false,
"transcript": "NM_001384615.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000600621.6",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472549.2",
"strand": false,
"transcript": "ENST00000600621.6",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000601130.6",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471629.2",
"strand": false,
"transcript": "ENST00000601130.6",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4212,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000855533.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525592.1",
"strand": false,
"transcript": "ENST00000855533.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 2552,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000855534.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525593.1",
"strand": false,
"transcript": "ENST00000855534.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 890,
"aa_ref": "D",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4267,
"cdna_start": 2496,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2239,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001384617.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2239G>A",
"hgvs_p": "p.Asp747Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371546.1",
"strand": false,
"transcript": "NM_001384617.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 890,
"aa_ref": "D",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4255,
"cdna_start": 2484,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2239,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000855532.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2239G>A",
"hgvs_p": "p.Asp747Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525591.1",
"strand": false,
"transcript": "ENST00000855532.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 890,
"aa_ref": "D",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": 2478,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2239,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000955625.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2239G>A",
"hgvs_p": "p.Asp747Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625684.1",
"strand": false,
"transcript": "ENST00000955625.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 883,
"aa_ref": "D",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4246,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2652,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001384618.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2218G>A",
"hgvs_p": "p.Asp740Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371547.1",
"strand": false,
"transcript": "NM_001384618.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 881,
"aa_ref": "D",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4240,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2212,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001384619.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2212G>A",
"hgvs_p": "p.Asp738Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371548.1",
"strand": false,
"transcript": "NM_001384619.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 880,
"aa_ref": "D",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 2378,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000922035.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2209G>A",
"hgvs_p": "p.Asp737Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592094.1",
"strand": false,
"transcript": "ENST00000922035.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 879,
"aa_ref": "D",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4234,
"cdna_start": 2463,
"cds_end": null,
"cds_length": 2640,
"cds_start": 2206,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001384620.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Asp736Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371549.1",
"strand": false,
"transcript": "NM_001384620.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 879,
"aa_ref": "D",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 2573,
"cds_end": null,
"cds_length": 2640,
"cds_start": 2206,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001384621.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Asp736Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371550.1",
"strand": false,
"transcript": "NM_001384621.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 865,
"aa_ref": "D",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4192,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 2598,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001384622.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Asp749Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371551.1",
"strand": false,
"transcript": "NM_001384622.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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