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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: 14-24240636-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24240636&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24240636,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001099274.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "NM_001099274.3",
"protein_id": "NP_001092744.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 451,
"cds_start": 844,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": "ENST00000267415.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "ENST00000267415.12",
"protein_id": "ENSP00000267415.7",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 451,
"cds_start": 844,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": "NM_001099274.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "ENST00000399423.8",
"protein_id": "ENSP00000382350.4",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 354,
"cds_start": 844,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001363668.2",
"protein_id": "NP_001350597.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 416,
"cds_start": 739,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000646753.1",
"protein_id": "ENSP00000494065.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 416,
"cds_start": 739,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "ENST00000699697.1",
"protein_id": "ENSP00000514527.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 378,
"cds_start": 844,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "NM_012461.3",
"protein_id": "NP_036593.2",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 354,
"cds_start": 844,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000699687.1",
"protein_id": "ENSP00000514525.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 319,
"cds_start": 739,
"cds_end": null,
"cds_length": 960,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Arg246Cys",
"transcript": "ENST00000557921.3",
"protein_id": "ENSP00000453157.3",
"transcript_support_level": 3,
"aa_start": 246,
"aa_end": null,
"aa_length": 318,
"cds_start": 736,
"cds_end": null,
"cds_length": 957,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Cys",
"transcript": "ENST00000699686.1",
"protein_id": "ENSP00000514524.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 285,
"cds_start": 637,
"cds_end": null,
"cds_length": 858,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Arg136Cys",
"transcript": "ENST00000558476.5",
"protein_id": "ENSP00000452724.1",
"transcript_support_level": 3,
"aa_start": 136,
"aa_end": null,
"aa_length": 145,
"cds_start": 406,
"cds_end": null,
"cds_length": 439,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Cys",
"transcript": "XM_017021217.2",
"protein_id": "XP_016876706.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 237,
"cds_start": 202,
"cds_end": null,
"cds_length": 714,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1147C>T",
"hgvs_p": null,
"transcript": "ENST00000557915.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.570C>T",
"hgvs_p": null,
"transcript": "ENST00000559549.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1234C>T",
"hgvs_p": null,
"transcript": "ENST00000699682.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1284C>T",
"hgvs_p": null,
"transcript": "ENST00000699683.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.*437C>T",
"hgvs_p": null,
"transcript": "ENST00000699684.1",
"protein_id": "ENSP00000514523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1048C>T",
"hgvs_p": null,
"transcript": "ENST00000699685.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1044C>T",
"hgvs_p": null,
"transcript": "ENST00000699688.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1400C>T",
"hgvs_p": null,
"transcript": "ENST00000699689.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1597C>T",
"hgvs_p": null,
"transcript": "ENST00000699690.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1741C>T",
"hgvs_p": null,
"transcript": "ENST00000699691.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1261C>T",
"hgvs_p": null,
"transcript": "ENST00000699693.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
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"computational_score_selected": 0.9203694462776184,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.878,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.475,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
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"pathogenic_score": 16,
"criteria": [
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"PM2",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
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"verdict": "Pathogenic",
"transcript": "NM_001099274.3",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": " autosomal dominant 1, autosomal dominant 3,Dyskeratosis congenita,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 O:1",
"phenotype_combined": "Dyskeratosis congenita, autosomal dominant 3|Dyskeratosis congenita, autosomal dominant 1|Dyskeratosis congenita|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}