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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: 4-127700059-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127700059&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "INTU",
"hgnc_id": 29239,
"hgvs_c": "c.1499A>C",
"hgvs_p": "p.Glu500Ala",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_015693.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS3,PM2,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.288,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "4",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Short rib-polydactyly syndrome,Short-rib thoracic dysplasia 20 with polydactyly",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6886784434318542,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 942,
"aa_ref": "E",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13208,
"cdna_start": 1577,
"cds_end": null,
"cds_length": 2829,
"cds_start": 1499,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_015693.4",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1499A>C",
"hgvs_p": "p.Glu500Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335251.11",
"protein_coding": true,
"protein_id": "NP_056508.2",
"strand": true,
"transcript": "NM_015693.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 942,
"aa_ref": "E",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13208,
"cdna_start": 1577,
"cds_end": null,
"cds_length": 2829,
"cds_start": 1499,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000335251.11",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1499A>C",
"hgvs_p": "p.Glu500Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015693.4",
"protein_coding": true,
"protein_id": "ENSP00000334003.5",
"strand": true,
"transcript": "ENST00000335251.11",
"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": 3006,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000503952.5",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "n.*256A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421995.1",
"strand": true,
"transcript": "ENST00000503952.5",
"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": 3006,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000503952.5",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "n.*256A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421995.1",
"strand": true,
"transcript": "ENST00000503952.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 947,
"aa_ref": "E",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000917159.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1514A>C",
"hgvs_p": "p.Glu505Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587218.1",
"strand": true,
"transcript": "ENST00000917159.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 941,
"aa_ref": "E",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1496,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000885219.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.Glu499Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555278.1",
"strand": true,
"transcript": "ENST00000885219.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 921,
"aa_ref": "E",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13150,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000917155.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1436A>C",
"hgvs_p": "p.Glu479Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587214.1",
"strand": true,
"transcript": "ENST00000917155.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 920,
"aa_ref": "E",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 2763,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000885218.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.Glu478Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555277.1",
"strand": true,
"transcript": "ENST00000885218.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 915,
"aa_ref": "E",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 1509,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000943831.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1418A>C",
"hgvs_p": "p.Glu473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613890.1",
"strand": true,
"transcript": "ENST00000943831.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 912,
"aa_ref": "E",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 2739,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000917158.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1409A>C",
"hgvs_p": "p.Glu470Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587217.1",
"strand": true,
"transcript": "ENST00000917158.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 883,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 2652,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000917157.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1322A>C",
"hgvs_p": "p.Glu441Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587216.1",
"strand": true,
"transcript": "ENST00000917157.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 783,
"aa_ref": "E",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943830.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1022A>C",
"hgvs_p": "p.Glu341Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613889.1",
"strand": true,
"transcript": "ENST00000943830.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 95,
"aa_ref": "E",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 290,
"cdna_start": 104,
"cds_end": null,
"cds_length": 290,
"cds_start": 104,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000506283.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Glu35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426171.1",
"strand": true,
"transcript": "ENST00000506283.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 924,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": null,
"cds_end": null,
"cds_length": 2775,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917156.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "c.1450-4169A>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587215.1",
"strand": true,
"transcript": "ENST00000917156.1",
"transcript_support_level": null
},
{
"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": 5740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000503626.5",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "n.*2766A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426287.1",
"strand": true,
"transcript": "ENST00000503626.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 514,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000512995.1",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "n.168A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000512995.1",
"transcript_support_level": 5
},
{
"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": 5740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000503626.5",
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"hgvs_c": "n.*2766A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426287.1",
"strand": true,
"transcript": "ENST00000503626.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1360128571",
"effect": "missense_variant",
"frequency_reference_population": 0.0000043582913,
"gene_hgnc_id": 29239,
"gene_symbol": "INTU",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000206318,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000263037,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "Short rib-polydactyly syndrome|Short-rib thoracic dysplasia 20 with polydactyly",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.386,
"pos": 127700059,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.402,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.10000000149011612,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.1,
"transcript": "NM_015693.4"
}
]
}