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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: 19-10581325-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10581325&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AP1M2",
"hgnc_id": 558,
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001300887.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.9465,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9622452259063721,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 423,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1272,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_005498.5",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000250244.11",
"protein_coding": true,
"protein_id": "NP_005489.2",
"strand": false,
"transcript": "NM_005498.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 423,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1272,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000250244.11",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005498.5",
"protein_coding": true,
"protein_id": "ENSP00000250244.5",
"strand": false,
"transcript": "ENST00000250244.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 425,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1278,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000590923.5",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465685.1",
"strand": false,
"transcript": "ENST00000590923.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 425,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1278,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001300887.2",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287816.1",
"strand": false,
"transcript": "NM_001300887.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 421,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1266,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918520.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588579.1",
"strand": false,
"transcript": "ENST00000918520.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 659,
"cds_end": null,
"cds_length": 1257,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918526.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588585.1",
"strand": false,
"transcript": "ENST00000918526.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "S",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1251,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918530.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Ser198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588589.1",
"strand": false,
"transcript": "ENST00000918530.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 390,
"aa_ref": "S",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1626,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1173,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918525.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588584.1",
"strand": false,
"transcript": "ENST00000918525.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 388,
"aa_ref": "S",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 587,
"cds_end": null,
"cds_length": 1167,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918522.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588581.1",
"strand": false,
"transcript": "ENST00000918522.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 680,
"cds_end": null,
"cds_length": 1119,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918524.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588583.1",
"strand": false,
"transcript": "ENST00000918524.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 370,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1113,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000903393.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573452.1",
"strand": false,
"transcript": "ENST00000903393.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 350,
"aa_ref": "S",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 470,
"cds_end": null,
"cds_length": 1053,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918521.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Ser130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588580.1",
"strand": false,
"transcript": "ENST00000918521.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 348,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1474,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1047,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918528.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588587.1",
"strand": false,
"transcript": "ENST00000918528.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 318,
"aa_ref": "S",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1375,
"cdna_start": 412,
"cds_end": null,
"cds_length": 957,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918529.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Ser130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588588.1",
"strand": false,
"transcript": "ENST00000918529.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 298,
"aa_ref": "S",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 961,
"cdna_start": 918,
"cds_end": null,
"cds_length": 897,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000591676.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466494.1",
"strand": false,
"transcript": "ENST00000591676.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 244,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 736,
"cdna_start": 377,
"cds_end": null,
"cds_length": 736,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000591240.5",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Ser126Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465193.1",
"strand": false,
"transcript": "ENST00000591240.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 238,
"aa_ref": "S",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 850,
"cdna_start": 668,
"cds_end": null,
"cds_length": 718,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000589684.5",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Ser179Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467498.1",
"strand": false,
"transcript": "ENST00000589684.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 399,
"aa_ref": "S",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1200,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047438018.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Ser179Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293974.1",
"strand": false,
"transcript": "XM_047438018.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 333,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1473,
"cdna_start": null,
"cds_end": null,
"cds_length": 1002,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918523.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.546+162C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588582.1",
"strand": false,
"transcript": "ENST00000918523.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 240,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1156,
"cdna_start": null,
"cds_end": null,
"cds_length": 723,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918527.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.267+2281C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588586.1",
"strand": false,
"transcript": "ENST00000918527.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 85,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 667,
"cdna_start": null,
"cds_end": null,
"cds_length": 258,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918531.1",
"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
"hgvs_c": "c.42+5865C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588590.1",
"strand": false,
"transcript": "ENST00000918531.1",
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}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs763698281",
"effect": "missense_variant",
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"gene_hgnc_id": 558,
"gene_symbol": "AP1M2",
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.985,
"pos": 10581325,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.519,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001300887.2"
}
]
}