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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: 15-70054512-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70054512&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 70054512,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438147.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1752C>G",
"hgvs_p": "p.Asp584Glu",
"transcript": "NM_001105192.3",
"protein_id": "NP_001098662.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 769,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2871,
"cdna_end": null,
"cdna_length": 5736,
"mane_select": "ENST00000451782.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105192.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1752C>G",
"hgvs_p": "p.Asp584Glu",
"transcript": "ENST00000451782.7",
"protein_id": "ENSP00000394717.3",
"transcript_support_level": 5,
"aa_start": 584,
"aa_end": null,
"aa_length": 769,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2871,
"cdna_end": null,
"cdna_length": 5736,
"mane_select": "NM_001105192.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451782.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1761C>G",
"hgvs_p": "p.Asp587Glu",
"transcript": "ENST00000558939.5",
"protein_id": "ENSP00000452871.1",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 772,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558939.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1746C>G",
"hgvs_p": "p.Asp582Glu",
"transcript": "ENST00000558379.5",
"protein_id": "ENSP00000453435.1",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 767,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558379.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1737C>G",
"hgvs_p": "p.Asp579Glu",
"transcript": "ENST00000557907.5",
"protein_id": "ENSP00000453107.1",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 764,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557907.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1737C>G",
"hgvs_p": "p.Asp579Glu",
"transcript": "ENST00000557997.5",
"protein_id": "ENSP00000453083.1",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 764,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557997.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1725C>G",
"hgvs_p": "p.Asp575Glu",
"transcript": "ENST00000317509.12",
"protein_id": "ENSP00000319233.8",
"transcript_support_level": 1,
"aa_start": 575,
"aa_end": null,
"aa_length": 760,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317509.12"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1791C>G",
"hgvs_p": "p.Asp597Glu",
"transcript": "ENST00000559929.5",
"protein_id": "ENSP00000453081.1",
"transcript_support_level": 5,
"aa_start": 597,
"aa_end": null,
"aa_length": 782,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559929.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1782C>G",
"hgvs_p": "p.Asp594Glu",
"transcript": "NM_001438147.1",
"protein_id": "NP_001425076.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 779,
"cds_start": 1782,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 5766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438147.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1782C>G",
"hgvs_p": "p.Asp594Glu",
"transcript": "ENST00000952208.1",
"protein_id": "ENSP00000622267.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 779,
"cds_start": 1782,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2899,
"cdna_end": null,
"cdna_length": 5756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952208.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Asp593Glu",
"transcript": "ENST00000558201.5",
"protein_id": "ENSP00000452881.1",
"transcript_support_level": 5,
"aa_start": 593,
"aa_end": null,
"aa_length": 778,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558201.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Asp589Glu",
"transcript": "NM_001438148.1",
"protein_id": "NP_001425077.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 774,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438148.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Asp589Glu",
"transcript": "ENST00000560939.5",
"protein_id": "ENSP00000452933.1",
"transcript_support_level": 5,
"aa_start": 589,
"aa_end": null,
"aa_length": 774,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560939.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1761C>G",
"hgvs_p": "p.Asp587Glu",
"transcript": "NM_005078.4",
"protein_id": "NP_005069.2",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 772,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 5745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005078.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1761C>G",
"hgvs_p": "p.Asp587Glu",
"transcript": "ENST00000559048.5",
"protein_id": "ENSP00000453760.1",
"transcript_support_level": 2,
"aa_start": 587,
"aa_end": null,
"aa_length": 772,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559048.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1749C>G",
"hgvs_p": "p.Asp583Glu",
"transcript": "ENST00000952209.1",
"protein_id": "ENSP00000622268.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 768,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 5311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952209.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1746C>G",
"hgvs_p": "p.Asp582Glu",
"transcript": "NM_001282980.2",
"protein_id": "NP_001269909.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 767,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2865,
"cdna_end": null,
"cdna_length": 5730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282980.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1743C>G",
"hgvs_p": "p.Asp581Glu",
"transcript": "NM_001438836.1",
"protein_id": "NP_001425765.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 766,
"cds_start": 1743,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 5727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438836.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1737C>G",
"hgvs_p": "p.Asp579Glu",
"transcript": "NM_001282979.2",
"protein_id": "NP_001269908.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 764,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2856,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282979.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1734C>G",
"hgvs_p": "p.Asp578Glu",
"transcript": "NM_001438837.1",
"protein_id": "NP_001425766.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 763,
"cds_start": 1734,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2853,
"cdna_end": null,
"cdna_length": 5718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438837.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Asp577Glu",
"transcript": "NM_001282981.2",
"protein_id": "NP_001269910.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 762,
"cds_start": 1731,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282981.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Asp577Glu",
"transcript": "ENST00000440567.7",
"protein_id": "ENSP00000415057.3",
"transcript_support_level": 2,
"aa_start": 577,
"aa_end": null,
"aa_length": 762,
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"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD",
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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
}