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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: 22-39316765-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39316765&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 39316765,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000967.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "NM_000967.4",
"protein_id": "NP_000958.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 403,
"cds_start": 442,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": "ENST00000216146.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000967.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000216146.9",
"protein_id": "ENSP00000346001.3",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 403,
"cds_start": 442,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": "NM_000967.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216146.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Lys96Glu",
"transcript": "ENST00000401609.5",
"protein_id": "ENSP00000386101.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 351,
"cds_start": 286,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401609.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "n.1282A>G",
"hgvs_p": null,
"transcript": "ENST00000465618.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465618.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000926233.1",
"protein_id": "ENSP00000596292.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 429,
"cds_start": 442,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926233.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "ENST00000926234.1",
"protein_id": "ENSP00000596293.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 410,
"cds_start": 463,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926234.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000871470.1",
"protein_id": "ENSP00000541529.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871470.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000971220.1",
"protein_id": "ENSP00000641279.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 401,
"cds_start": 442,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971220.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000871474.1",
"protein_id": "ENSP00000541533.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 400,
"cds_start": 442,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871474.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000871477.1",
"protein_id": "ENSP00000541536.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 399,
"cds_start": 442,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871477.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000871476.1",
"protein_id": "ENSP00000541535.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 398,
"cds_start": 442,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871476.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000926227.1",
"protein_id": "ENSP00000596286.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 397,
"cds_start": 442,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926227.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000871471.1",
"protein_id": "ENSP00000541530.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 395,
"cds_start": 442,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871471.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000871469.1",
"protein_id": "ENSP00000541528.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 394,
"cds_start": 442,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871469.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Lys134Glu",
"transcript": "ENST00000926230.1",
"protein_id": "ENSP00000596289.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 389,
"cds_start": 400,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926230.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Lys133Glu",
"transcript": "ENST00000871473.1",
"protein_id": "ENSP00000541532.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 388,
"cds_start": 397,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871473.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000871468.1",
"protein_id": "ENSP00000541527.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 371,
"cds_start": 442,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 1237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871468.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000871472.1",
"protein_id": "ENSP00000541531.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 369,
"cds_start": 442,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871472.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000926229.1",
"protein_id": "ENSP00000596288.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 357,
"cds_start": 442,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926229.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Lys95Glu",
"transcript": "ENST00000871475.1",
"protein_id": "ENSP00000541534.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 350,
"cds_start": 283,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 1133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871475.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "ENST00000926232.1",
"protein_id": "ENSP00000596291.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 324,
"cds_start": 442,
"cds_end": null,
"cds_length": 975,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926232.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Lys175Glu",
"transcript": "ENST00000453303.5",
"protein_id": "ENSP00000415198.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 304,
"cds_start": 523,
"cds_end": null,
"cds_length": 916,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453303.5"
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{
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{
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{
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{
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],
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"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18091970682144165,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.432,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.012,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000967.4",
"gene_symbol": "RPL3",
"hgnc_id": 10332,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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{
"score": -2,
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"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_000026.1",
"gene_symbol": "SNORD139",
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"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*77A>G",
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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
}