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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: 9-137108482-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137108482&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PP3",
"BP4_Moderate",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAN1B1",
"hgnc_id": 6823,
"hgvs_c": "c.1991C>T",
"hgvs_p": "p.Thr664Met",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -5,
"transcript": "NM_016219.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP4_Moderate,BS1",
"acmg_score": -5,
"allele_count_reference_population": 208,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5599,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,Rafiq syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07513967156410217,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 699,
"aa_ref": "T",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1991,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_016219.5",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1991C>T",
"hgvs_p": "p.Thr664Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371589.9",
"protein_coding": true,
"protein_id": "NP_057303.2",
"strand": true,
"transcript": "NM_016219.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 699,
"aa_ref": "T",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1991,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000371589.9",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1991C>T",
"hgvs_p": "p.Thr664Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016219.5",
"protein_coding": true,
"protein_id": "ENSP00000360645.4",
"strand": true,
"transcript": "ENST00000371589.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000371587.9",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "n.*1668C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483132.2",
"strand": true,
"transcript": "ENST00000371587.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000544448.6",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "n.*274C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444966.2",
"strand": true,
"transcript": "ENST00000544448.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000371587.9",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "n.*1668C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483132.2",
"strand": true,
"transcript": "ENST00000371587.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000544448.6",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "n.*274C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444966.2",
"strand": true,
"transcript": "ENST00000544448.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 726,
"aa_ref": "T",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 2181,
"cds_start": 2072,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000877685.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.2072C>T",
"hgvs_p": "p.Thr691Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547744.1",
"strand": true,
"transcript": "ENST00000877685.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 2002,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000682212.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1987C>T",
"hgvs_p": "p.Arg663Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508217.1",
"strand": true,
"transcript": "ENST00000682212.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 724,
"aa_ref": "R",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1984,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000684759.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507818.1",
"strand": true,
"transcript": "ENST00000684759.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 722,
"aa_ref": "T",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 2076,
"cds_end": null,
"cds_length": 2169,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000877687.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.2060C>T",
"hgvs_p": "p.Thr687Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547746.1",
"strand": true,
"transcript": "ENST00000877687.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 717,
"aa_ref": "T",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2795,
"cdna_start": 2090,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000916528.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.2045C>T",
"hgvs_p": "p.Thr682Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586587.1",
"strand": true,
"transcript": "ENST00000916528.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 698,
"aa_ref": "T",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 2118,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000683324.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507373.1",
"strand": true,
"transcript": "ENST00000683324.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 698,
"aa_ref": "T",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916526.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586585.1",
"strand": true,
"transcript": "ENST00000916526.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 698,
"aa_ref": "T",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916527.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586586.1",
"strand": true,
"transcript": "ENST00000916527.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 697,
"aa_ref": "T",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000684144.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1985C>T",
"hgvs_p": "p.Thr662Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508213.1",
"strand": true,
"transcript": "ENST00000684144.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 697,
"aa_ref": "T",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916531.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1985C>T",
"hgvs_p": "p.Thr662Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586590.1",
"strand": true,
"transcript": "ENST00000916531.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 686,
"aa_ref": "T",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1952,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000682117.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1952C>T",
"hgvs_p": "p.Thr651Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507328.1",
"strand": true,
"transcript": "ENST00000682117.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 680,
"aa_ref": "T",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1934,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000877684.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1934C>T",
"hgvs_p": "p.Thr645Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547743.1",
"strand": true,
"transcript": "ENST00000877684.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 678,
"aa_ref": "T",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 1959,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1928,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916530.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1928C>T",
"hgvs_p": "p.Thr643Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586589.1",
"strand": true,
"transcript": "ENST00000916530.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 675,
"aa_ref": "T",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916529.1",
"gene_hgnc_id": 6823,
"gene_symbol": "MAN1B1",
"hgvs_c": "c.1919C>T",
"hgvs_p": "p.Thr640Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586588.1",
"strand": true,
"transcript": "ENST00000916529.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 663,
"aa_ref": "T",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 1914,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1883,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
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