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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: 8-124553087-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=124553087&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 124553087,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000518547.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2173A>G",
"hgvs_p": "p.Thr725Ala",
"transcript": "NM_014751.6",
"protein_id": "NP_055566.3",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 755,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": "ENST00000518547.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2173A>G",
"hgvs_p": "p.Thr725Ala",
"transcript": "ENST00000518547.6",
"protein_id": "ENSP00000429064.1",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 755,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": "NM_014751.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Thr700Ala",
"transcript": "ENST00000378017.7",
"protein_id": "ENSP00000367256.3",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 730,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 4458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Thr443Ala",
"transcript": "ENST00000431961.6",
"protein_id": "ENSP00000393606.2",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 473,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 1711,
"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": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "n.1446A>G",
"hgvs_p": null,
"transcript": "ENST00000523587.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2185A>G",
"hgvs_p": "p.Thr729Ala",
"transcript": "NM_001282971.2",
"protein_id": "NP_001269900.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 759,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 5006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2185A>G",
"hgvs_p": "p.Thr729Ala",
"transcript": "ENST00000325064.9",
"protein_id": "ENSP00000322804.5",
"transcript_support_level": 2,
"aa_start": 729,
"aa_end": null,
"aa_length": 759,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2170A>G",
"hgvs_p": "p.Thr724Ala",
"transcript": "NM_001363294.2",
"protein_id": "NP_001350223.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 754,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2122A>G",
"hgvs_p": "p.Thr708Ala",
"transcript": "NM_001363295.2",
"protein_id": "NP_001350224.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 738,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2640,
"cdna_end": null,
"cdna_length": 4943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Thr704Ala",
"transcript": "NM_001363296.2",
"protein_id": "NP_001350225.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 734,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2107A>G",
"hgvs_p": "p.Thr703Ala",
"transcript": "NM_001363297.2",
"protein_id": "NP_001350226.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 733,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Thr700Ala",
"transcript": "NM_001282974.2",
"protein_id": "NP_001269903.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 730,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2095A>G",
"hgvs_p": "p.Thr699Ala",
"transcript": "NM_001363298.2",
"protein_id": "NP_001350227.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 729,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2613,
"cdna_end": null,
"cdna_length": 4916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1990A>G",
"hgvs_p": "p.Thr664Ala",
"transcript": "NM_001363299.2",
"protein_id": "NP_001350228.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 694,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 4811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Thr660Ala",
"transcript": "NM_001363300.2",
"protein_id": "NP_001350229.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 690,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2496,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1975A>G",
"hgvs_p": "p.Thr659Ala",
"transcript": "NM_001363301.2",
"protein_id": "NP_001350230.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 689,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Thr643Ala",
"transcript": "NM_001363302.2",
"protein_id": "NP_001350231.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 673,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 4748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1843A>G",
"hgvs_p": "p.Thr615Ala",
"transcript": "ENST00000524090.5",
"protein_id": "ENSP00000428319.1",
"transcript_support_level": 2,
"aa_start": 615,
"aa_end": null,
"aa_length": 645,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1534A>G",
"hgvs_p": "p.Thr512Ala",
"transcript": "ENST00000519168.5",
"protein_id": "ENSP00000428685.1",
"transcript_support_level": 2,
"aa_start": 512,
"aa_end": null,
"aa_length": 542,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2512A>G",
"hgvs_p": "p.Thr838Ala",
"transcript": "XM_005251111.3",
"protein_id": "XP_005251168.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 868,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2509A>G",
"hgvs_p": "p.Thr837Ala",
"transcript": "XM_006716700.3",
"protein_id": "XP_006716763.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 867,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 3027,
"cdna_end": null,
"cdna_length": 5330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.2500A>G",
"hgvs_p": "p.Thr834Ala",
"transcript": "XM_006716701.3",
"protein_id": "XP_006716764.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 864,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 3018,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000518547.6",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": -12,
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000678753.1",
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"effects": [
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],
"inheritance_mode": "AR,Unknown",
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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
}