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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: 19-7860594-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7860594&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7860594,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001159944.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.His470Tyr",
"transcript": "NM_001159944.3",
"protein_id": "NP_001153416.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 805,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000538904.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159944.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.His470Tyr",
"transcript": "ENST00000538904.7",
"protein_id": "ENSP00000445905.1",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 805,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001159944.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538904.7"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.His459Tyr",
"transcript": "ENST00000270530.8",
"protein_id": "ENSP00000270530.3",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 794,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270530.8"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.His470Tyr",
"transcript": "ENST00000962893.1",
"protein_id": "ENSP00000632952.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 827,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962893.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.His459Tyr",
"transcript": "ENST00000962892.1",
"protein_id": "ENSP00000632951.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 816,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962892.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.His470Tyr",
"transcript": "ENST00000871231.1",
"protein_id": "ENSP00000541290.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 805,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871231.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.His470Tyr",
"transcript": "ENST00000871233.1",
"protein_id": "ENSP00000541292.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 805,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871233.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1399C>T",
"hgvs_p": "p.His467Tyr",
"transcript": "ENST00000962898.1",
"protein_id": "ENSP00000632957.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 802,
"cds_start": 1399,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962898.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.His470Tyr",
"transcript": "ENST00000962895.1",
"protein_id": "ENSP00000632954.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 799,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962895.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.His459Tyr",
"transcript": "NM_145245.5",
"protein_id": "NP_660288.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 794,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145245.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.His459Tyr",
"transcript": "ENST00000871232.1",
"protein_id": "ENSP00000541291.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 794,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871232.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1366C>T",
"hgvs_p": "p.His456Tyr",
"transcript": "ENST00000962896.1",
"protein_id": "ENSP00000632955.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 791,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962896.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.His454Tyr",
"transcript": "ENST00000962894.1",
"protein_id": "ENSP00000632953.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 789,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962894.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.His453Tyr",
"transcript": "ENST00000962899.1",
"protein_id": "ENSP00000632958.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 788,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962899.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.His445Tyr",
"transcript": "ENST00000962891.1",
"protein_id": "ENSP00000632950.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 780,
"cds_start": 1333,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962891.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1327C>T",
"hgvs_p": "p.His443Tyr",
"transcript": "ENST00000871230.1",
"protein_id": "ENSP00000541289.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 778,
"cds_start": 1327,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871230.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.His422Tyr",
"transcript": "ENST00000962890.1",
"protein_id": "ENSP00000632949.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 757,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962890.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.His411Tyr",
"transcript": "ENST00000962900.1",
"protein_id": "ENSP00000632959.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 746,
"cds_start": 1231,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962900.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.1216C>T",
"hgvs_p": "p.His406Tyr",
"transcript": "ENST00000962897.1",
"protein_id": "ENSP00000632956.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 741,
"cds_start": 1216,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962897.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"hgvs_c": "c.10C>T",
"hgvs_p": "p.His4Tyr",
"transcript": "ENST00000601766.1",
"protein_id": "ENSP00000470145.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 138,
"cds_start": 10,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601766.1"
}
],
"gene_symbol": "EVI5L",
"gene_hgnc_id": 30464,
"dbsnp": "rs553709080",
"frequency_reference_population": 0.000006874742,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000621671,
"gnomad_genomes_af": 0.0000131277,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06476905941963196,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.1315,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.134,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001159944.3",
"gene_symbol": "EVI5L",
"hgnc_id": 30464,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.His470Tyr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}