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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: 3-183017269-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183017269&ref=C&alt=G&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.2046G>C",
"hgvs_p": "p.Met682Ile",
"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.226C>G",
"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": 217,
"alphamissense_prediction": null,
"alphamissense_score": 0.6659,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.25,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "3-methylcrotonyl-CoA carboxylase 1 deficiency,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7342846393585205,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 725,
"aa_ref": "M",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2178,
"cds_start": 2046,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_020166.5",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2046G>C",
"hgvs_p": "p.Met682Ile",
"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": "I",
"aa_end": null,
"aa_length": 725,
"aa_ref": "M",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2178,
"cds_start": 2046,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000265594.9",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2046G>C",
"hgvs_p": "p.Met682Ile",
"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": "I",
"aa_end": null,
"aa_length": 616,
"aa_ref": "M",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 2422,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1719,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000492597.5",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1719G>C",
"hgvs_p": "p.Met573Ile",
"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.*1643G>C",
"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.*1643G>C",
"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": "I",
"aa_end": null,
"aa_length": 747,
"aa_ref": "M",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2557,
"cdna_start": 2207,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2112,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000947201.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2112G>C",
"hgvs_p": "p.Met704Ile",
"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": "I",
"aa_end": null,
"aa_length": 740,
"aa_ref": "M",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2223,
"cds_start": 2091,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000908221.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Met697Ile",
"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": "I",
"aa_end": null,
"aa_length": 722,
"aa_ref": "M",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2169,
"cds_start": 2037,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000908215.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2037G>C",
"hgvs_p": "p.Met679Ile",
"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": "I",
"aa_end": null,
"aa_length": 719,
"aa_ref": "M",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2160,
"cds_start": 2028,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000908219.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.2028G>C",
"hgvs_p": "p.Met676Ile",
"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": "I",
"aa_end": null,
"aa_length": 708,
"aa_ref": "M",
"aa_start": 665,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1995,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000908222.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1995G>C",
"hgvs_p": "p.Met665Ile",
"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": "I",
"aa_end": null,
"aa_length": 696,
"aa_ref": "M",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1959,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908216.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1959G>C",
"hgvs_p": "p.Met653Ile",
"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
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 693,
"aa_ref": "M",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2427,
"cdna_start": 2077,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1950,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908214.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1950G>C",
"hgvs_p": "p.Met650Ile",
"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
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 689,
"aa_ref": "M",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1938,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908217.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1938G>C",
"hgvs_p": "p.Met646Ile",
"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
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 686,
"aa_ref": "M",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 2026,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1929,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000947202.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1929G>C",
"hgvs_p": "p.Met643Ile",
"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": "I",
"aa_end": null,
"aa_length": 635,
"aa_ref": "M",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1875,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1776,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000947200.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1776G>C",
"hgvs_p": "p.Met592Ile",
"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": "I",
"aa_end": null,
"aa_length": 616,
"aa_ref": "M",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1719,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001363880.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1719G>C",
"hgvs_p": "p.Met573Ile",
"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": "I",
"aa_end": null,
"aa_length": 608,
"aa_ref": "M",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1695,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001293273.2",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1695G>C",
"hgvs_p": "p.Met565Ile",
"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": "I",
"aa_end": null,
"aa_length": 509,
"aa_ref": "M",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1398,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000908223.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1398G>C",
"hgvs_p": "p.Met466Ile",
"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": "I",
"aa_end": null,
"aa_length": 708,
"aa_ref": "M",
"aa_start": 665,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 2680,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1995,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047448586.1",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1995G>C",
"hgvs_p": "p.Met665Ile",
"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": "I",
"aa_end": null,
"aa_length": 687,
"aa_ref": "M",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 2713,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1932,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011512992.3",
"gene_hgnc_id": 6936,
"gene_symbol": "MCCC1",
"hgvs_c": "c.1932G>C",
"hgvs_p": "p.Met644Ile",
"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": "I",
"aa_end": null,
"aa_length": 616,
"aa_ref": "M",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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