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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: 6-31143322-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31143322&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31143322,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001394641.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Glu753Asp",
"transcript": "NM_001105564.2",
"protein_id": "NP_001099034.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 871,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396268.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105564.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Glu753Asp",
"transcript": "ENST00000396268.8",
"protein_id": "ENSP00000379566.3",
"transcript_support_level": 1,
"aa_start": 753,
"aa_end": null,
"aa_length": 871,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105564.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396268.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2151G>C",
"hgvs_p": "p.Glu717Asp",
"transcript": "ENST00000451521.6",
"protein_id": "ENSP00000401039.2",
"transcript_support_level": 1,
"aa_start": 717,
"aa_end": null,
"aa_length": 835,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451521.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "ENST00000376266.9",
"protein_id": "ENSP00000365442.5",
"transcript_support_level": 1,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376266.9"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2286G>C",
"hgvs_p": "p.Glu762Asp",
"transcript": "NM_001394641.1",
"protein_id": "NP_001381570.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 880,
"cds_start": 2286,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394641.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2151G>C",
"hgvs_p": "p.Glu717Asp",
"transcript": "NM_001105563.3",
"protein_id": "NP_001099033.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 835,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105563.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "NM_001394642.1",
"protein_id": "NP_001381571.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394642.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "NM_001394643.1",
"protein_id": "NP_001381572.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394643.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "NM_001394644.1",
"protein_id": "NP_001381573.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394644.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "NM_019052.4",
"protein_id": "NP_061925.2",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019052.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1983G>C",
"hgvs_p": "p.Glu661Asp",
"transcript": "NM_001394646.1",
"protein_id": "NP_001381575.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 779,
"cds_start": 1983,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394646.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1914G>C",
"hgvs_p": "p.Glu638Asp",
"transcript": "NM_001394647.1",
"protein_id": "NP_001381576.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 756,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394647.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1884G>C",
"hgvs_p": "p.Glu628Asp",
"transcript": "NM_001394648.1",
"protein_id": "NP_001381577.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 746,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394648.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1833G>C",
"hgvs_p": "p.Glu611Asp",
"transcript": "ENST00000396263.6",
"protein_id": "ENSP00000379561.2",
"transcript_support_level": 5,
"aa_start": 611,
"aa_end": null,
"aa_length": 729,
"cds_start": 1833,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396263.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1635G>C",
"hgvs_p": "p.Glu545Asp",
"transcript": "NM_001394649.1",
"protein_id": "NP_001381578.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 663,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394649.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2178G>C",
"hgvs_p": "p.Glu726Asp",
"transcript": "XM_011514702.3",
"protein_id": "XP_011513004.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 844,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514702.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "XM_017010963.2",
"protein_id": "XP_016866452.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010963.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "XM_017010964.2",
"protein_id": "XP_016866453.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010964.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "XM_017010966.2",
"protein_id": "XP_016866455.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010966.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "XM_017010968.2",
"protein_id": "XP_016866457.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010968.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "XM_047418908.1",
"protein_id": "XP_047274864.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418908.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "XM_047418909.1",
"protein_id": "XP_047274865.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 782,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
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],
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"allele_count_reference_population": 1,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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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
}