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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: 6-15533266-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=15533266&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 15533266,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032122.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Gly214Asp",
"transcript": "NM_032122.5",
"protein_id": "NP_115498.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 351,
"cds_start": 641,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344537.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032122.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Gly214Asp",
"transcript": "ENST00000344537.10",
"protein_id": "ENSP00000341680.6",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 351,
"cds_start": 641,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032122.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344537.10"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Gly179Asp",
"transcript": "ENST00000622898.4",
"protein_id": "ENSP00000481997.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 316,
"cds_start": 536,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622898.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Gly214Asp",
"transcript": "ENST00000338950.9",
"protein_id": "ENSP00000344718.5",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 303,
"cds_start": 641,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338950.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*639G>A",
"hgvs_p": null,
"transcript": "ENST00000506844.1",
"protein_id": "ENSP00000424202.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*639G>A",
"hgvs_p": null,
"transcript": "ENST00000506844.1",
"protein_id": "ENSP00000424202.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506844.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.722G>A",
"hgvs_p": "p.Gly241Asp",
"transcript": "ENST00000857317.1",
"protein_id": "ENSP00000527376.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 378,
"cds_start": 722,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857317.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Gly227Asp",
"transcript": "ENST00000857318.1",
"protein_id": "ENSP00000527377.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 364,
"cds_start": 680,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857318.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.590G>A",
"hgvs_p": "p.Gly197Asp",
"transcript": "NM_001271668.2",
"protein_id": "NP_001258597.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 334,
"cds_start": 590,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271668.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.590G>A",
"hgvs_p": "p.Gly197Asp",
"transcript": "ENST00000355917.7",
"protein_id": "ENSP00000348183.4",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 334,
"cds_start": 590,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355917.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Gly179Asp",
"transcript": "NM_001271669.2",
"protein_id": "NP_001258598.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 316,
"cds_start": 536,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271669.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Gly214Asp",
"transcript": "NM_183040.2",
"protein_id": "NP_898861.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 303,
"cds_start": 641,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183040.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Gly133Asp",
"transcript": "NM_001271667.2",
"protein_id": "NP_001258596.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 270,
"cds_start": 398,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271667.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000857319.1",
"protein_id": "ENSP00000527378.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 242,
"cds_start": 314,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857319.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Gly179Asp",
"transcript": "ENST00000511762.2",
"protein_id": "ENSP00000427473.2",
"transcript_support_level": 3,
"aa_start": 179,
"aa_end": null,
"aa_length": 229,
"cds_start": 536,
"cds_end": null,
"cds_length": 692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511762.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Gly58Asp",
"transcript": "ENST00000462989.6",
"protein_id": "ENSP00000427239.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 195,
"cds_start": 173,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462989.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Gly31Asp",
"transcript": "ENST00000509674.1",
"protein_id": "ENSP00000421797.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 141,
"cds_start": 92,
"cds_end": null,
"cds_length": 427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509674.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Gly201Asp",
"transcript": "XM_047419394.1",
"protein_id": "XP_047275350.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 338,
"cds_start": 602,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419394.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Gly184Asp",
"transcript": "XM_047419395.1",
"protein_id": "XP_047275351.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 321,
"cds_start": 551,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419395.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Gly58Asp",
"transcript": "XM_011514937.3",
"protein_id": "XP_011513239.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 195,
"cds_start": 173,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514937.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.461-8597G>A",
"hgvs_p": null,
"transcript": "ENST00000931310.1",
"protein_id": "ENSP00000601369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931310.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*551G>A",
"hgvs_p": null,
"transcript": "ENST00000510395.5",
"protein_id": "ENSP00000424685.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000510395.5"
},
{
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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{
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}