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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: X-16845050-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=16845050&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 16845050,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001198719.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1263G>C",
"hgvs_p": "p.Glu421Asp",
"transcript": "NM_002893.4",
"protein_id": "NP_002884.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 425,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380087.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002893.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1263G>C",
"hgvs_p": "p.Glu421Asp",
"transcript": "ENST00000380087.7",
"protein_id": "ENSP00000369427.3",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 425,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002893.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380087.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1395G>C",
"hgvs_p": "p.Glu465Asp",
"transcript": "NM_001198719.2",
"protein_id": "NP_001185648.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 469,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198719.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1395G>C",
"hgvs_p": "p.Glu465Asp",
"transcript": "ENST00000380084.8",
"protein_id": "ENSP00000369424.4",
"transcript_support_level": 2,
"aa_start": 465,
"aa_end": null,
"aa_length": 469,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380084.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1356G>C",
"hgvs_p": "p.Glu452Asp",
"transcript": "ENST00000967933.1",
"protein_id": "ENSP00000637992.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 456,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967933.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1317G>C",
"hgvs_p": "p.Glu439Asp",
"transcript": "ENST00000967934.1",
"protein_id": "ENSP00000637993.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 443,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967934.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1293G>C",
"hgvs_p": "p.Glu431Asp",
"transcript": "ENST00000919338.1",
"protein_id": "ENSP00000589397.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 435,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919338.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1287G>C",
"hgvs_p": "p.Glu429Asp",
"transcript": "ENST00000863748.1",
"protein_id": "ENSP00000533807.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 433,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863748.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1287G>C",
"hgvs_p": "p.Glu429Asp",
"transcript": "ENST00000919335.1",
"protein_id": "ENSP00000589394.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 433,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919335.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1287G>C",
"hgvs_p": "p.Glu429Asp",
"transcript": "ENST00000919337.1",
"protein_id": "ENSP00000589396.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 433,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919337.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000967939.1",
"protein_id": "ENSP00000637998.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 428,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967939.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1263G>C",
"hgvs_p": "p.Glu421Asp",
"transcript": "ENST00000863745.1",
"protein_id": "ENSP00000533804.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 425,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863745.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1263G>C",
"hgvs_p": "p.Glu421Asp",
"transcript": "ENST00000919334.1",
"protein_id": "ENSP00000589393.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 425,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919334.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1260G>C",
"hgvs_p": "p.Glu420Asp",
"transcript": "ENST00000863755.1",
"protein_id": "ENSP00000533814.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 424,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863755.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1251G>C",
"hgvs_p": "p.Glu417Asp",
"transcript": "ENST00000863753.1",
"protein_id": "ENSP00000533812.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 421,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863753.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1236G>C",
"hgvs_p": "p.Glu412Asp",
"transcript": "ENST00000404022.5",
"protein_id": "ENSP00000386068.1",
"transcript_support_level": 5,
"aa_start": 412,
"aa_end": null,
"aa_length": 416,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404022.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1236G>C",
"hgvs_p": "p.Glu412Asp",
"transcript": "ENST00000863750.1",
"protein_id": "ENSP00000533809.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 416,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863750.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1227G>C",
"hgvs_p": "p.Glu409Asp",
"transcript": "ENST00000863752.1",
"protein_id": "ENSP00000533811.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863752.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1185G>C",
"hgvs_p": "p.Glu395Asp",
"transcript": "ENST00000863751.1",
"protein_id": "ENSP00000533810.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 399,
"cds_start": 1185,
"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": "ENST00000863751.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1170G>C",
"hgvs_p": "p.Glu390Asp",
"transcript": "ENST00000863746.1",
"protein_id": "ENSP00000533805.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 394,
"cds_start": 1170,
"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": "ENST00000863746.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1158G>C",
"hgvs_p": "p.Glu386Asp",
"transcript": "ENST00000967938.1",
"protein_id": "ENSP00000637997.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 390,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967938.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1152G>C",
"hgvs_p": "p.Glu384Asp",
"transcript": "ENST00000967937.1",
"protein_id": "ENSP00000637996.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 388,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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],
"verdict": "Likely_benign",
"transcript": "NM_001198719.2",
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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
}