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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: 1-100990580-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100990580&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 100990580,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015958.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.686A>C",
"hgvs_p": "p.Asp229Ala",
"transcript": "NM_015958.3",
"protein_id": "NP_057042.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 285,
"cds_start": 686,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370109.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015958.3"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.686A>C",
"hgvs_p": "p.Asp229Ala",
"transcript": "ENST00000370109.8",
"protein_id": "ENSP00000359127.3",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 285,
"cds_start": 686,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015958.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370109.8"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.686A>C",
"hgvs_p": "p.Asp229Ala",
"transcript": "ENST00000427040.3",
"protein_id": "ENSP00000394364.3",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 285,
"cds_start": 686,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427040.3"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.683A>C",
"hgvs_p": "p.Asp228Ala",
"transcript": "ENST00000342173.11",
"protein_id": "ENSP00000339630.7",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 284,
"cds_start": 683,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342173.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.690A>C",
"hgvs_p": null,
"transcript": "ENST00000464270.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000464270.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.854A>C",
"hgvs_p": "p.Asp285Ala",
"transcript": "ENST00000889724.1",
"protein_id": "ENSP00000559783.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 341,
"cds_start": 854,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889724.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.854A>C",
"hgvs_p": "p.Asp285Ala",
"transcript": "ENST00000934684.1",
"protein_id": "ENSP00000604743.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 341,
"cds_start": 854,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934684.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.809A>C",
"hgvs_p": "p.Asp270Ala",
"transcript": "ENST00000889721.1",
"protein_id": "ENSP00000559780.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 326,
"cds_start": 809,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889721.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.809A>C",
"hgvs_p": "p.Asp270Ala",
"transcript": "ENST00000934683.1",
"protein_id": "ENSP00000604742.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 326,
"cds_start": 809,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934683.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.806A>C",
"hgvs_p": "p.Asp269Ala",
"transcript": "ENST00000934685.1",
"protein_id": "ENSP00000604744.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 325,
"cds_start": 806,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934685.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.707A>C",
"hgvs_p": "p.Asp236Ala",
"transcript": "ENST00000934682.1",
"protein_id": "ENSP00000604741.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 292,
"cds_start": 707,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934682.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.686A>C",
"hgvs_p": "p.Asp229Ala",
"transcript": "NM_001077394.2",
"protein_id": "NP_001070862.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 285,
"cds_start": 686,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077394.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.686A>C",
"hgvs_p": "p.Asp229Ala",
"transcript": "ENST00000488176.1",
"protein_id": "ENSP00000418282.1",
"transcript_support_level": 3,
"aa_start": 229,
"aa_end": null,
"aa_length": 285,
"cds_start": 686,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488176.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.686A>C",
"hgvs_p": "p.Asp229Ala",
"transcript": "ENST00000889720.1",
"protein_id": "ENSP00000559779.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 285,
"cds_start": 686,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889720.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.686A>C",
"hgvs_p": "p.Asp229Ala",
"transcript": "ENST00000889722.1",
"protein_id": "ENSP00000559781.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 285,
"cds_start": 686,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889722.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.686A>C",
"hgvs_p": "p.Asp229Ala",
"transcript": "ENST00000889723.1",
"protein_id": "ENSP00000559782.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 285,
"cds_start": 686,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889723.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.683A>C",
"hgvs_p": "p.Asp228Ala",
"transcript": "NM_001077395.2",
"protein_id": "NP_001070863.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 284,
"cds_start": 683,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077395.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.683A>C",
"hgvs_p": "p.Asp228Ala",
"transcript": "ENST00000889726.1",
"protein_id": "ENSP00000559785.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 284,
"cds_start": 683,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889726.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.683A>C",
"hgvs_p": "p.Asp228Ala",
"transcript": "ENST00000934681.1",
"protein_id": "ENSP00000604740.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 284,
"cds_start": 683,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934681.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.680A>C",
"hgvs_p": "p.Asp227Ala",
"transcript": "ENST00000950006.1",
"protein_id": "ENSP00000620065.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 283,
"cds_start": 680,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950006.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.542A>C",
"hgvs_p": "p.Asp181Ala",
"transcript": "ENST00000889727.1",
"protein_id": "ENSP00000559786.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 237,
"cds_start": 542,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889727.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.Asp157Ala",
"transcript": "ENST00000934686.1",
"protein_id": "ENSP00000604745.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 213,
"cds_start": 470,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934686.1"
},
{
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"aa_alt": "A",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.11,
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{
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"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
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"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015958.3",
"gene_symbol": "DPH5",
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"effects": [
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],
"inheritance_mode": "AR",
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},
{
"score": 1,
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000850622.1",
"gene_symbol": "SLC30A7",
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"effects": [
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}