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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: 19-4688808-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4688808&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DPP9",
"hgnc_id": 18648,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_139159.5",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DPP9-AS1",
"hgnc_id": 50706,
"hgvs_c": "n.401+1103C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000715917.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 45,
"alphamissense_prediction": null,
"alphamissense_score": 0.0799,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"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": "Benign",
"computational_score_selected": 0.07605898380279541,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4273,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_139159.5",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4273,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000262960.14",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001384611.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4383,
"cdna_start": 2201,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001384612.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001384613.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001384614.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4220,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001384615.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000600621.6",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 2202,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000601130.6",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4212,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000855533.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000855534.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4267,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001384617.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4255,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000855532.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": 2067,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1828,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000955625.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1828G>A",
"hgvs_p": "p.Asp610Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4246,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 2652,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001384618.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4240,
"cdna_start": 2058,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1801,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001384619.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Asp601Asn",
"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": 600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 1967,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1798,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000922035.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1798G>A",
"hgvs_p": "p.Asp600Asn",
"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": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4234,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001384620.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Asp599Asn",
"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": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001384621.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Asp599Asn",
"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": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4192,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001384622.1",
"gene_hgnc_id": 18648,
"gene_symbol": "DPP9",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"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",
"aa_end": null,
"aa_length": 863,
"aa_ref": "D",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
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