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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: 4-127687772-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127687772&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 127687772,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015693.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "NM_015693.4",
"protein_id": "NP_056508.2",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 942,
"cds_start": 1354,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335251.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015693.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "ENST00000335251.11",
"protein_id": "ENSP00000334003.5",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 942,
"cds_start": 1354,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015693.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335251.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "n.*111G>A",
"hgvs_p": null,
"transcript": "ENST00000503952.5",
"protein_id": "ENSP00000421995.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503952.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "n.*111G>A",
"hgvs_p": null,
"transcript": "ENST00000503952.5",
"protein_id": "ENSP00000421995.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503952.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000917159.1",
"protein_id": "ENSP00000587218.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 947,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917159.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"transcript": "ENST00000885219.1",
"protein_id": "ENSP00000555278.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 941,
"cds_start": 1351,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885219.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "ENST00000917156.1",
"protein_id": "ENSP00000587215.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 924,
"cds_start": 1354,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917156.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Ala431Thr",
"transcript": "ENST00000917155.1",
"protein_id": "ENSP00000587214.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 921,
"cds_start": 1291,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917155.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Ala430Thr",
"transcript": "ENST00000885218.1",
"protein_id": "ENSP00000555277.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 920,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885218.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Ala425Thr",
"transcript": "ENST00000943831.1",
"protein_id": "ENSP00000613890.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 915,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943831.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Ala422Thr",
"transcript": "ENST00000917158.1",
"protein_id": "ENSP00000587217.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 912,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917158.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Ala393Thr",
"transcript": "ENST00000917157.1",
"protein_id": "ENSP00000587216.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 883,
"cds_start": 1177,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.973-12238G>A",
"hgvs_p": null,
"transcript": "ENST00000943830.1",
"protein_id": "ENSP00000613889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": null,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "n.*2621G>A",
"hgvs_p": null,
"transcript": "ENST00000503626.5",
"protein_id": "ENSP00000426287.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503626.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "n.*2621G>A",
"hgvs_p": null,
"transcript": "ENST00000503626.5",
"protein_id": "ENSP00000426287.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503626.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.-42G>A",
"hgvs_p": null,
"transcript": "ENST00000506283.1",
"protein_id": "ENSP00000426171.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506283.1"
}
],
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"dbsnp": "rs150681845",
"frequency_reference_population": 0.0023948562,
"hom_count_reference_population": 19,
"allele_count_reference_population": 3864,
"gnomad_exomes_af": 0.00244855,
"gnomad_genomes_af": 0.0018793,
"gnomad_exomes_ac": 3578,
"gnomad_genomes_ac": 286,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0040069520473480225,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.007,
"revel_prediction": "Benign",
"alphamissense_score": 0.0683,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.019,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015693.4",
"gene_symbol": "INTU",
"hgnc_id": 29239,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr"
}
],
"clinvar_disease": "Growth delay,INTU-related disorder,Nephronophthisis,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "not provided|Growth delay;Nephronophthisis|not specified|INTU-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}