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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: 16-67658190-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67658190&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67658190,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001082486.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ser334Arg",
"transcript": "NM_001082486.2",
"protein_id": "NP_001075955.2",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 458,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620761.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082486.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ser334Arg",
"transcript": "ENST00000620761.6",
"protein_id": "ENSP00000478084.1",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 458,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001082486.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620761.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ser334Arg",
"transcript": "ENST00000695659.1",
"protein_id": "ENSP00000512089.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 464,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695659.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.993C>G",
"hgvs_p": "p.Ser331Arg",
"transcript": "NM_022914.3",
"protein_id": "NP_075065.3",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 455,
"cds_start": 993,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022914.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.993C>G",
"hgvs_p": "p.Ser331Arg",
"transcript": "ENST00000219251.13",
"protein_id": "ENSP00000219251.8",
"transcript_support_level": 2,
"aa_start": 331,
"aa_end": null,
"aa_length": 455,
"cds_start": 993,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219251.13"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ser334Arg",
"transcript": "ENST00000938871.1",
"protein_id": "ENSP00000608930.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 454,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938871.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Ser328Arg",
"transcript": "ENST00000695648.1",
"protein_id": "ENSP00000512081.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 452,
"cds_start": 984,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695648.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ser334Arg",
"transcript": "ENST00000695734.1",
"protein_id": "ENSP00000512127.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 451,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695734.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.975C>G",
"hgvs_p": "p.Ser325Arg",
"transcript": "ENST00000957226.1",
"protein_id": "ENSP00000627285.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 449,
"cds_start": 975,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957226.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ser334Arg",
"transcript": "ENST00000896207.1",
"protein_id": "ENSP00000566266.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 445,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896207.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.957C>G",
"hgvs_p": "p.Ser319Arg",
"transcript": "ENST00000695694.1",
"protein_id": "ENSP00000512105.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 957,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695694.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.993C>G",
"hgvs_p": "p.Ser331Arg",
"transcript": "ENST00000602320.1",
"protein_id": "ENSP00000473679.2",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 442,
"cds_start": 993,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602320.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Ser305Arg",
"transcript": "NM_001410884.1",
"protein_id": "NP_001397813.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 429,
"cds_start": 915,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410884.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Ser305Arg",
"transcript": "ENST00000695697.1",
"protein_id": "ENSP00000512106.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 429,
"cds_start": 915,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695697.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.906C>G",
"hgvs_p": "p.Ser302Arg",
"transcript": "ENST00000957225.1",
"protein_id": "ENSP00000627284.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 426,
"cds_start": 906,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957225.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.897C>G",
"hgvs_p": "p.Ser299Arg",
"transcript": "ENST00000896208.1",
"protein_id": "ENSP00000566267.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 423,
"cds_start": 897,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896208.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Ser305Arg",
"transcript": "ENST00000957224.1",
"protein_id": "ENSP00000627283.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 416,
"cds_start": 915,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957224.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.666C>G",
"hgvs_p": "p.Ser222Arg",
"transcript": "ENST00000938872.1",
"protein_id": "ENSP00000608931.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 346,
"cds_start": 666,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938872.1"
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.986+16C>G",
"hgvs_p": null,
"transcript": "ENST00000695658.1",
"protein_id": "ENSP00000512088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695658.1"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.830-162C>G",
"hgvs_p": null,
"transcript": "ENST00000602382.6",
"protein_id": "ENSP00000473313.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"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": "ENST00000602382.6"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.743-162C>G",
"hgvs_p": null,
"transcript": "ENST00000695733.1",
"protein_id": "ENSP00000512126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695733.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.646-337C>G",
"hgvs_p": null,
"transcript": "ENST00000695732.1",
"protein_id": "ENSP00000512125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": null,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695732.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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],
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"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
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"computational_score_selected": 0.13960576057434082,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.56,
"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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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}