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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: 7-55472968-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55472968&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 55472968,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001321242.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.406A>G",
"hgvs_p": "p.Met136Val",
"transcript": "NM_030796.5",
"protein_id": "NP_110423.3",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 172,
"cds_start": 406,
"cds_end": null,
"cds_length": 519,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": "ENST00000285279.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030796.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.406A>G",
"hgvs_p": "p.Met136Val",
"transcript": "ENST00000285279.10",
"protein_id": "ENSP00000285279.5",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 172,
"cds_start": 406,
"cds_end": null,
"cds_length": 519,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": "NM_030796.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285279.10"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.355A>G",
"hgvs_p": "p.Met119Val",
"transcript": "ENST00000418904.5",
"protein_id": "ENSP00000393210.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 155,
"cds_start": 355,
"cds_end": null,
"cds_length": 468,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418904.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Asn142Ser",
"transcript": "NM_001321242.1",
"protein_id": "NP_001308171.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 212,
"cds_start": 425,
"cds_end": null,
"cds_length": 639,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321242.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Asn111Ser",
"transcript": "NM_001321243.2",
"protein_id": "NP_001308172.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 181,
"cds_start": 332,
"cds_end": null,
"cds_length": 546,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321243.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Met135Val",
"transcript": "ENST00000922470.1",
"protein_id": "ENSP00000592529.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 171,
"cds_start": 403,
"cds_end": null,
"cds_length": 516,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922470.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Met134Val",
"transcript": "NM_001321244.2",
"protein_id": "NP_001308173.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 170,
"cds_start": 400,
"cds_end": null,
"cds_length": 513,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321244.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Met134Val",
"transcript": "ENST00000427700.1",
"protein_id": "ENSP00000407356.1",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 170,
"cds_start": 400,
"cds_end": null,
"cds_length": 513,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427700.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Met133Val",
"transcript": "NM_001284283.2",
"protein_id": "NP_001271212.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 169,
"cds_start": 397,
"cds_end": null,
"cds_length": 510,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284283.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Met133Val",
"transcript": "ENST00000625836.2",
"protein_id": "ENSP00000486983.1",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 169,
"cds_start": 397,
"cds_end": null,
"cds_length": 510,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 1400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625836.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.293A>G",
"hgvs_p": "p.Asn98Ser",
"transcript": "NM_001321249.2",
"protein_id": "NP_001308178.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 168,
"cds_start": 293,
"cds_end": null,
"cds_length": 507,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321249.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.293A>G",
"hgvs_p": "p.Asn98Ser",
"transcript": "NM_001321250.2",
"protein_id": "NP_001308179.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 168,
"cds_start": 293,
"cds_end": null,
"cds_length": 507,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321250.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.293A>G",
"hgvs_p": "p.Asn98Ser",
"transcript": "NM_001321251.1",
"protein_id": "NP_001308180.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 168,
"cds_start": 293,
"cds_end": null,
"cds_length": 507,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321251.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.379A>G",
"hgvs_p": "p.Met127Val",
"transcript": "NM_001284284.1",
"protein_id": "NP_001271213.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 163,
"cds_start": 379,
"cds_end": null,
"cds_length": 492,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284284.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.379A>G",
"hgvs_p": "p.Met127Val",
"transcript": "ENST00000433959.5",
"protein_id": "ENSP00000415230.1",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 163,
"cds_start": 379,
"cds_end": null,
"cds_length": 492,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433959.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.355A>G",
"hgvs_p": "p.Met119Val",
"transcript": "NM_001284282.2",
"protein_id": "NP_001271211.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 155,
"cds_start": 355,
"cds_end": null,
"cds_length": 468,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284282.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.328A>G",
"hgvs_p": "p.Met110Val",
"transcript": "NM_001321246.2",
"protein_id": "NP_001308175.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 146,
"cds_start": 328,
"cds_end": null,
"cds_length": 441,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321246.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Asn71Ser",
"transcript": "NM_001321247.2",
"protein_id": "NP_001308176.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 141,
"cds_start": 212,
"cds_end": null,
"cds_length": 426,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321247.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.217A>G",
"hgvs_p": "p.Met73Val",
"transcript": "NM_001321248.2",
"protein_id": "NP_001308177.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 109,
"cds_start": 217,
"cds_end": null,
"cds_length": 330,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321248.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.217A>G",
"hgvs_p": "p.Met73Val",
"transcript": "ENST00000454227.5",
"protein_id": "ENSP00000411447.1",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 109,
"cds_start": 217,
"cds_end": null,
"cds_length": 330,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454227.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Met69Val",
"transcript": "ENST00000428097.5",
"protein_id": "ENSP00000389601.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 105,
"cds_start": 205,
"cds_end": null,
"cds_length": 318,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428097.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Met69Val",
"transcript": "ENST00000428648.5",
"protein_id": "ENSP00000413948.1",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 105,
"cds_start": 205,
"cds_end": null,
"cds_length": 318,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428648.5"
},
{
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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",
"revel_score": 0.053,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.921,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
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{
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001321242.1",
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"effects": [
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}