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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: 3-183017290-CAT-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183017290&ref=CAT&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MCCC1",
"hgnc_id": 6936,
"hgvs_c": "c.2023_2025delATGinsCGC",
"hgvs_p": "p.Met675Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_020166.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MCCC1-AS1",
"hgnc_id": 40366,
"hgvs_c": "n.247_249delCATinsGCG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000471731.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 725,
"aa_ref": "M",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 2081,
"cds_end": null,
"cds_length": 2178,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020166.5",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2023_2025delATGinsCGC",
"hgvs_p": "p.Met675Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265594.9",
"protein_coding": true,
"protein_id": "NP_064551.3",
"strand": false,
"transcript": "NM_020166.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 725,
"aa_ref": "M",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 2081,
"cds_end": null,
"cds_length": 2178,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265594.9",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2023_2025delATGinsCGC",
"hgvs_p": "p.Met675Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020166.5",
"protein_coding": true,
"protein_id": "ENSP00000265594.4",
"strand": false,
"transcript": "ENST00000265594.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 616,
"aa_ref": "M",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492597.5",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1696_1698delATGinsCGC",
"hgvs_p": "p.Met566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419898.1",
"strand": false,
"transcript": "ENST00000492597.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000497830.5",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "n.*1620_*1622delATGinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420088.1",
"strand": false,
"transcript": "ENST00000497830.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000497830.5",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "n.*1620_*1622delATGinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420088.1",
"strand": false,
"transcript": "ENST00000497830.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 747,
"aa_ref": "M",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2557,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947201.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2089_2091delATGinsCGC",
"hgvs_p": "p.Met697Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617260.1",
"strand": false,
"transcript": "ENST00000947201.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 740,
"aa_ref": "M",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2223,
"cds_start": 2068,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908221.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2068_2070delATGinsCGC",
"hgvs_p": "p.Met690Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578280.1",
"strand": false,
"transcript": "ENST00000908221.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 722,
"aa_ref": "M",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 2169,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908215.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2014_2016delATGinsCGC",
"hgvs_p": "p.Met672Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578274.1",
"strand": false,
"transcript": "ENST00000908215.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 719,
"aa_ref": "M",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 2160,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908219.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2005_2007delATGinsCGC",
"hgvs_p": "p.Met669Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578278.1",
"strand": false,
"transcript": "ENST00000908219.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 708,
"aa_ref": "M",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1972,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908222.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1972_1974delATGinsCGC",
"hgvs_p": "p.Met658Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578281.1",
"strand": false,
"transcript": "ENST00000908222.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 696,
"aa_ref": "M",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 2035,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1936,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908216.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1936_1938delATGinsCGC",
"hgvs_p": "p.Met646Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578275.1",
"strand": false,
"transcript": "ENST00000908216.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 693,
"aa_ref": "M",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2427,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1927,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908214.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1927_1929delATGinsCGC",
"hgvs_p": "p.Met643Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578273.1",
"strand": false,
"transcript": "ENST00000908214.1",
"transcript_support_level": null
},
{
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"aa_length": 689,
"aa_ref": "M",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908217.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1915_1917delATGinsCGC",
"hgvs_p": "p.Met639Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578276.1",
"strand": false,
"transcript": "ENST00000908217.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 686,
"aa_ref": "M",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 2005,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1906,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947202.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1906_1908delATGinsCGC",
"hgvs_p": "p.Met636Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617261.1",
"strand": false,
"transcript": "ENST00000947202.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 635,
"aa_ref": "M",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947200.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1753_1755delATGinsCGC",
"hgvs_p": "p.Met585Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617259.1",
"strand": false,
"transcript": "ENST00000947200.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 616,
"aa_ref": "M",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 2035,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363880.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1696_1698delATGinsCGC",
"hgvs_p": "p.Met566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350809.1",
"strand": false,
"transcript": "NM_001363880.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 608,
"aa_ref": "M",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1672,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001293273.2",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1672_1674delATGinsCGC",
"hgvs_p": "p.Met558Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280202.1",
"strand": false,
"transcript": "NM_001293273.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 509,
"aa_ref": "M",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1375,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908223.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1375_1377delATGinsCGC",
"hgvs_p": "p.Met459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578282.1",
"strand": false,
"transcript": "ENST00000908223.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 708,
"aa_ref": "M",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 2659,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1972,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448586.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1972_1974delATGinsCGC",
"hgvs_p": "p.Met658Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304542.1",
"strand": false,
"transcript": "XM_047448586.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 687,
"aa_ref": "M",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 2692,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1909,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512992.3",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1909_1911delATGinsCGC",
"hgvs_p": "p.Met637Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511294.1",
"strand": false,
"transcript": "XM_011512992.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 616,
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