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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: 3-40487042-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=40487042&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 40487042,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000432264.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.532A>G",
"hgvs_p": "p.Ile178Val",
"transcript": "NM_001145093.4",
"protein_id": "NP_001138565.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 576,
"cds_start": 532,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": "ENST00000432264.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.532A>G",
"hgvs_p": "p.Ile178Val",
"transcript": "ENST00000432264.4",
"protein_id": "ENSP00000388710.2",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 576,
"cds_start": 532,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": "NM_001145093.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.652A>G",
"hgvs_p": "p.Ile218Val",
"transcript": "NM_001145082.4",
"protein_id": "NP_001138554.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 616,
"cds_start": 652,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.652A>G",
"hgvs_p": "p.Ile218Val",
"transcript": "ENST00000447116.6",
"protein_id": "ENSP00000411132.2",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 616,
"cds_start": 652,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.652A>G",
"hgvs_p": "p.Ile218Val",
"transcript": "ENST00000521353.5",
"protein_id": "ENSP00000430705.1",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 616,
"cds_start": 652,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Ile169Val",
"transcript": "NM_001145094.3",
"protein_id": "NP_001138566.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 567,
"cds_start": 505,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Ile169Val",
"transcript": "ENST00000429348.6",
"protein_id": "ENSP00000398024.3",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 567,
"cds_start": 505,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Ile169Val",
"transcript": "ENST00000522736.5",
"protein_id": "ENSP00000428004.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 567,
"cds_start": 505,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Ile162Val",
"transcript": "NM_173656.5",
"protein_id": "NP_775927.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 560,
"cds_start": 484,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Ile162Val",
"transcript": "ENST00000314686.9",
"protein_id": "ENSP00000322529.5",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 560,
"cds_start": 484,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Ile134Val",
"transcript": "NM_001145083.3",
"protein_id": "NP_001138555.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 532,
"cds_start": 400,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Ile134Val",
"transcript": "ENST00000456778.5",
"protein_id": "ENSP00000397232.1",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 532,
"cds_start": 400,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Ile120Val",
"transcript": "NM_001363277.2",
"protein_id": "NP_001350206.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 518,
"cds_start": 358,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Ile217Val",
"transcript": "XM_011533607.2",
"protein_id": "XP_011531909.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"transcript": "XM_006713112.3",
"protein_id": "XP_006713175.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 575,
"cds_start": 529,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Ile170Val",
"transcript": "XM_047448010.1",
"protein_id": "XP_047303966.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 568,
"cds_start": 508,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Ile169Val",
"transcript": "XM_017006225.2",
"protein_id": "XP_016861714.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 567,
"cds_start": 505,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ile133Val",
"transcript": "XM_006713113.4",
"protein_id": "XP_006713176.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 531,
"cds_start": 397,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "n.*502A>G",
"hgvs_p": null,
"transcript": "ENST00000494154.6",
"protein_id": "ENSP00000430574.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "n.656A>G",
"hgvs_p": null,
"transcript": "ENST00000520737.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"hgvs_c": "n.*502A>G",
"hgvs_p": null,
"transcript": "ENST00000494154.6",
"protein_id": "ENSP00000430574.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF620",
"gene_hgnc_id": 28742,
"hgvs_c": "n.-50+9685A>G",
"hgvs_p": null,
"transcript": "ENST00000649142.1",
"protein_id": "ENSP00000498172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF619",
"gene_hgnc_id": 26910,
"dbsnp": "rs753748702",
"frequency_reference_population": 0.00007000944,
"hom_count_reference_population": 1,
"allele_count_reference_population": 113,
"gnomad_exomes_af": 0.0000711435,
"gnomad_genomes_af": 0.0000591195,
"gnomad_exomes_ac": 104,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024871766567230225,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.084,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000432264.4",
"gene_symbol": "ZNF619",
"hgnc_id": 26910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.532A>G",
"hgvs_p": "p.Ile178Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000649142.1",
"gene_symbol": "ZNF620",
"hgnc_id": 28742,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.-50+9685A>G",
"hgvs_p": null
}
],
"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
}