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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: 20-50893503-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=50893503&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 50893503,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000621696.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "NM_001282531.3",
"protein_id": "NP_001269460.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": "ENST00000621696.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "ENST00000621696.5",
"protein_id": "ENSP00000483881.1",
"transcript_support_level": 5,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": "NM_001282531.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "ENST00000349014.8",
"protein_id": "ENSP00000342905.3",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "ENST00000371602.9",
"protein_id": "ENSP00000360662.2",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 7360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "ENST00000396029.8",
"protein_id": "ENSP00000379346.3",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 6396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1427C>G",
"hgvs_p": "p.Ser476Trp",
"transcript": "NM_001439000.1",
"protein_id": "NP_001425929.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1427,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 6631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1427C>G",
"hgvs_p": "p.Ser476Trp",
"transcript": "ENST00000673732.1",
"protein_id": "ENSP00000501294.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1427,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 6631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "NM_001282532.2",
"protein_id": "NP_001269461.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "NM_001347511.2",
"protein_id": "NP_001334440.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 6497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "NM_015339.5",
"protein_id": "NP_056154.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 6588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "NM_181442.4",
"protein_id": "NP_852107.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "ENST00000396032.8",
"protein_id": "ENSP00000379349.2",
"transcript_support_level": 2,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "NM_001439001.1",
"protein_id": "NP_001425930.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 874,
"cds_start": 527,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 6300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "ENST00000645081.1",
"protein_id": "ENSP00000495540.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 874,
"cds_start": 527,
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"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 4773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1427C>G",
"hgvs_p": "p.Ser476Trp",
"transcript": "XM_011528747.3",
"protein_id": "XP_011527049.2",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1427,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 2946,
"cdna_end": null,
"cdna_length": 7531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Ser413Trp",
"transcript": "XM_011528748.3",
"protein_id": "XP_011527050.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 1111,
"cds_start": 1238,
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"cds_length": 3336,
"cdna_start": 1812,
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"cdna_length": 6397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "XM_047440075.1",
"protein_id": "XP_047296031.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2903,
"cdna_end": null,
"cdna_length": 7488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "XM_047440076.1",
"protein_id": "XP_047296032.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 7572,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp",
"transcript": "XM_047440077.1",
"protein_id": "XP_047296033.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1211,
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"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 6715,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.202-3546C>G",
"hgvs_p": null,
"transcript": "ENST00000644386.1",
"protein_id": "ENSP00000493755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": -4,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
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"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"dbsnp": "rs587777524",
"frequency_reference_population": 0.000004338099,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.0000034212,
"gnomad_genomes_af": 0.0000131461,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28228071331977844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.219,
"revel_prediction": "Benign",
"alphamissense_score": 0.3464,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.358,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000621696.5",
"gene_symbol": "ADNP",
"hgnc_id": 15766,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Ser404Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}