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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: 7-4784287-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=4784287&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "AP5Z1",
"hgnc_id": 22197,
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_014855.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"chr": "7",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Hereditary spastic paraplegia 48",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.550000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 807,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5529,
"cdna_start": 799,
"cds_end": null,
"cds_length": 2424,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_014855.3",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649063.2",
"protein_coding": true,
"protein_id": "NP_055670.1",
"strand": true,
"transcript": "NM_014855.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 807,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5529,
"cdna_start": 799,
"cds_end": null,
"cds_length": 2424,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000649063.2",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014855.3",
"protein_coding": true,
"protein_id": "ENSP00000497815.1",
"strand": true,
"transcript": "ENST00000649063.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 832,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 788,
"cds_end": null,
"cds_length": 2499,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865634.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535693.1",
"strand": true,
"transcript": "ENST00000865634.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 830,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2939,
"cdna_start": 788,
"cds_end": null,
"cds_length": 2493,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865636.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535695.1",
"strand": true,
"transcript": "ENST00000865636.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 821,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2901,
"cdna_start": 777,
"cds_end": null,
"cds_length": 2466,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963395.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633454.1",
"strand": true,
"transcript": "ENST00000963395.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 816,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 799,
"cds_end": null,
"cds_length": 2451,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963389.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633448.1",
"strand": true,
"transcript": "ENST00000963389.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 814,
"aa_ref": "Q",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 958,
"cds_end": null,
"cds_length": 2445,
"cds_start": 868,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963390.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Gln290*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633449.1",
"strand": true,
"transcript": "ENST00000963390.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 813,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 777,
"cds_end": null,
"cds_length": 2442,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963393.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633452.1",
"strand": true,
"transcript": "ENST00000963393.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 806,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 730,
"cds_end": null,
"cds_length": 2421,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963396.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633455.1",
"strand": true,
"transcript": "ENST00000963396.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 792,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 795,
"cds_end": null,
"cds_length": 2379,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000913390.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583449.1",
"strand": true,
"transcript": "ENST00000913390.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 791,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 793,
"cds_end": null,
"cds_length": 2376,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963391.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633450.1",
"strand": true,
"transcript": "ENST00000963391.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 788,
"cds_end": null,
"cds_length": 2283,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865635.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535694.1",
"strand": true,
"transcript": "ENST00000865635.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 722,
"aa_ref": "Q",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 533,
"cds_end": null,
"cds_length": 2169,
"cds_start": 451,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000963392.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Gln151*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633451.1",
"strand": true,
"transcript": "ENST00000963392.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 691,
"aa_ref": "Q",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2521,
"cdna_start": 784,
"cds_end": null,
"cds_length": 2076,
"cds_start": 706,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865637.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Gln236*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535696.1",
"strand": true,
"transcript": "ENST00000865637.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 651,
"aa_ref": "Q",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5342,
"cdna_start": 612,
"cds_end": null,
"cds_length": 1956,
"cds_start": 238,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001364858.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Gln80*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351787.1",
"strand": true,
"transcript": "NM_001364858.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 695,
"aa_ref": "Q",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5234,
"cdna_start": 504,
"cds_end": null,
"cds_length": 2088,
"cds_start": 370,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047421098.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Gln124*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277054.1",
"strand": true,
"transcript": "XM_047421098.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 492,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": null,
"cds_end": null,
"cds_length": 1479,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963394.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.366+2533C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633453.1",
"strand": true,
"transcript": "ENST00000963394.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000477680.6",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "n.464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000477680.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 786,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000491375.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "n.561C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000491375.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000496303.6",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "n.534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000496303.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1027,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000647628.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "n.197C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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