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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: 22-39312960-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39312960&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 39312960,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000967.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1192G>T",
"hgvs_p": "p.Ala398Ser",
"transcript": "NM_000967.4",
"protein_id": "NP_000958.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 403,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216146.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000967.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1192G>T",
"hgvs_p": "p.Ala398Ser",
"transcript": "ENST00000216146.9",
"protein_id": "ENSP00000346001.3",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 403,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000967.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216146.9"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1036G>T",
"hgvs_p": "p.Ala346Ser",
"transcript": "ENST00000401609.5",
"protein_id": "ENSP00000386101.1",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 351,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "n.2032G>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465618.5"
},
{
"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": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "n.1323G>T",
"hgvs_p": null,
"transcript": "ENST00000467105.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467105.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Ala424Ser",
"transcript": "ENST00000926233.1",
"protein_id": "ENSP00000596292.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 429,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926233.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1213G>T",
"hgvs_p": "p.Ala405Ser",
"transcript": "ENST00000926234.1",
"protein_id": "ENSP00000596293.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 410,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926234.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1201G>T",
"hgvs_p": "p.Ala401Ser",
"transcript": "ENST00000871470.1",
"protein_id": "ENSP00000541529.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 406,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871470.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1186G>T",
"hgvs_p": "p.Ala396Ser",
"transcript": "ENST00000971220.1",
"protein_id": "ENSP00000641279.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 401,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971220.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Ala395Ser",
"transcript": "ENST00000871474.1",
"protein_id": "ENSP00000541533.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 400,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871474.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1180G>T",
"hgvs_p": "p.Ala394Ser",
"transcript": "ENST00000871477.1",
"protein_id": "ENSP00000541536.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 399,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871477.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1177G>T",
"hgvs_p": "p.Ala393Ser",
"transcript": "ENST00000871476.1",
"protein_id": "ENSP00000541535.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 398,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871476.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1174G>T",
"hgvs_p": "p.Ala392Ser",
"transcript": "ENST00000926227.1",
"protein_id": "ENSP00000596286.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 397,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926227.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1168G>T",
"hgvs_p": "p.Ala390Ser",
"transcript": "ENST00000871471.1",
"protein_id": "ENSP00000541530.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 395,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871471.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"transcript": "ENST00000871469.1",
"protein_id": "ENSP00000541528.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 394,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871469.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1150G>T",
"hgvs_p": "p.Ala384Ser",
"transcript": "ENST00000926230.1",
"protein_id": "ENSP00000596289.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 389,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926230.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Ala383Ser",
"transcript": "ENST00000871473.1",
"protein_id": "ENSP00000541532.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 388,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871473.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1096G>T",
"hgvs_p": "p.Ala366Ser",
"transcript": "ENST00000871468.1",
"protein_id": "ENSP00000541527.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871468.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1090G>T",
"hgvs_p": "p.Ala364Ser",
"transcript": "ENST00000871472.1",
"protein_id": "ENSP00000541531.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 369,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871472.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1054G>T",
"hgvs_p": "p.Ala352Ser",
"transcript": "ENST00000926229.1",
"protein_id": "ENSP00000596288.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 357,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926229.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1045G>T",
"hgvs_p": "p.Ala349Ser",
"transcript": "NM_001033853.2",
"protein_id": "NP_001029025.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 354,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033853.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"transcript": "ENST00000871475.1",
"protein_id": "ENSP00000541534.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 350,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871475.1"
},
{
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"computational_score_selected": 0.3408600389957428,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4"
],
"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
}