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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: 16-8801910-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8801910&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "PMM2",
"hgnc_id": 9115,
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Val60Leu",
"inheritance_mode": "AR",
"pathogenic_score": 19,
"score": 19,
"transcript": "NM_000303.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 19,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.498,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "16",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "PMM2-congenital disorder of glycosylation,PMM2-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:4 US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6209999918937683,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 246,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 222,
"cds_end": null,
"cds_length": 741,
"cds_start": 178,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000303.3",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Val60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268261.9",
"protein_coding": true,
"protein_id": "NP_000294.1",
"strand": true,
"transcript": "NM_000303.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 246,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 222,
"cds_end": null,
"cds_length": 741,
"cds_start": 178,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000268261.9",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Val60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000303.3",
"protein_coding": true,
"protein_id": "ENSP00000268261.4",
"strand": true,
"transcript": "ENST00000268261.9",
"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": 793,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000565221.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.178G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457932.1",
"strand": true,
"transcript": "ENST00000565221.5",
"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": 1557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000566540.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.178G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454284.1",
"strand": true,
"transcript": "ENST00000566540.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 260,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 219,
"cds_end": null,
"cds_length": 783,
"cds_start": 178,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000966170.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Val60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636229.1",
"strand": true,
"transcript": "ENST00000966170.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 245,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 239,
"cds_end": null,
"cds_length": 738,
"cds_start": 178,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000932322.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Val60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602381.1",
"strand": true,
"transcript": "ENST00000932322.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 236,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 214,
"cds_end": null,
"cds_length": 711,
"cds_start": 178,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000932323.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Glu60*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602382.1",
"strand": true,
"transcript": "ENST00000932323.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 231,
"aa_ref": "V",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 999,
"cdna_start": 164,
"cds_end": null,
"cds_length": 696,
"cds_start": 133,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000859787.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Val45Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529846.1",
"strand": true,
"transcript": "ENST00000859787.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 228,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1085,
"cdna_start": 345,
"cds_end": null,
"cds_length": 687,
"cds_start": 178,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000682008.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Val60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507849.1",
"strand": true,
"transcript": "ENST00000682008.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 228,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 260,
"cds_end": null,
"cds_length": 687,
"cds_start": 178,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000932321.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Val60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602380.1",
"strand": true,
"transcript": "ENST00000932321.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 223,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 222,
"cds_end": null,
"cds_length": 672,
"cds_start": 178,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000859785.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Glu60*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529844.1",
"strand": true,
"transcript": "ENST00000859785.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 219,
"aa_ref": "V",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": 301,
"cds_end": null,
"cds_length": 660,
"cds_start": 97,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000566983.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Val33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457956.1",
"strand": true,
"transcript": "ENST00000566983.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 182,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 852,
"cdna_start": 209,
"cds_end": null,
"cds_length": 549,
"cds_start": 178,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000859788.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Val60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529847.1",
"strand": true,
"transcript": "ENST00000859788.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 155,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 698,
"cdna_start": 194,
"cds_end": null,
"cds_length": 468,
"cds_start": 178,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000569958.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Glu60*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456302.1",
"strand": true,
"transcript": "ENST00000569958.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 131,
"aa_ref": "G",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 201,
"cds_end": null,
"cds_length": 396,
"cds_start": 178,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000859786.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Gly60*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529845.1",
"strand": true,
"transcript": "ENST00000859786.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 163,
"aa_ref": "M",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 109,
"cds_end": null,
"cds_length": 492,
"cds_start": 6,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047434215.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Met2Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290171.1",
"strand": true,
"transcript": "XM_047434215.1",
"transcript_support_level": null
},
{
"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": 931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000562318.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.178G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454395.1",
"strand": true,
"transcript": "ENST00000562318.5",
"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": 583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000562448.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.219G>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": "ENST00000562448.1",
"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": 1036,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000564030.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.240G>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": "ENST00000564030.5",
"transcript_support_level": 2
},
{
"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": 567,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000564069.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.148G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455320.1",
"strand": true,
"transcript": "ENST00000564069.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
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