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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: 11-7565595-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=7565595&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 7565595,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001351853.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "NM_003621.5",
"protein_id": "NP_003612.3",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 876,
"cds_start": 107,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": "ENST00000299492.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003621.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "ENST00000299492.9",
"protein_id": "ENSP00000299492.4",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 876,
"cds_start": 107,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": "NM_003621.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299492.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "NM_001351853.2",
"protein_id": "NP_001338782.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 928,
"cds_start": 107,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351853.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "ENST00000684123.1",
"protein_id": "ENSP00000507842.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 927,
"cds_start": 107,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684123.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "NM_001351854.2",
"protein_id": "NP_001338783.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 917,
"cds_start": 107,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351854.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "NM_001351855.2",
"protein_id": "NP_001338784.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 887,
"cds_start": 107,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351855.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "NM_001351856.2",
"protein_id": "NP_001338785.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 878,
"cds_start": 107,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351856.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "NM_001351862.2",
"protein_id": "NP_001338791.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 876,
"cds_start": 107,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351862.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "ENST00000857461.1",
"protein_id": "ENSP00000527520.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 876,
"cds_start": 107,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857461.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "ENST00000857462.1",
"protein_id": "ENSP00000527521.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 876,
"cds_start": 107,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857462.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "ENST00000857460.1",
"protein_id": "ENSP00000527519.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 875,
"cds_start": 107,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857460.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "ENST00000933098.1",
"protein_id": "ENSP00000603157.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 862,
"cds_start": 107,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933098.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "ENST00000527790.5",
"protein_id": "ENSP00000434981.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 169,
"cds_start": 107,
"cds_end": null,
"cds_length": 512,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527790.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "ENST00000526873.5",
"protein_id": "ENSP00000434641.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 88,
"cds_start": 107,
"cds_end": null,
"cds_length": 268,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526873.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "ENST00000528947.5",
"protein_id": "ENSP00000431724.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 88,
"cds_start": 107,
"cds_end": null,
"cds_length": 268,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528947.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "ENST00000526046.1",
"protein_id": "ENSP00000433026.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 69,
"cds_start": 107,
"cds_end": null,
"cds_length": 210,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526046.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "XM_006718349.4",
"protein_id": "XP_006718412.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 927,
"cds_start": 107,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718349.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "XM_011520413.3",
"protein_id": "XP_011518715.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 927,
"cds_start": 107,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520413.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "XM_011520414.3",
"protein_id": "XP_011518716.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 927,
"cds_start": 107,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520414.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "XM_005253177.4",
"protein_id": "XP_005253234.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 916,
"cds_start": 107,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253177.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "XM_047427750.1",
"protein_id": "XP_047283706.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 916,
"cds_start": 107,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427750.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"transcript": "XM_011520415.4",
"protein_id": "XP_011518717.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 900,
"cds_start": 107,
"cds_end": null,
"cds_length": 2703,
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{
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{
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],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.09406033158302307,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.226,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "PPFIBP2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}