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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-16862958-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=16862958&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 16862958,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001198719.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "NM_002893.4",
"protein_id": "NP_002884.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 425,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000380087.7",
"protein_id": "ENSP00000369427.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 425,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Gly146Ser",
"transcript": "NM_001198719.2",
"protein_id": "NP_001185648.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 469,
"cds_start": 436,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Gly146Ser",
"transcript": "ENST00000380084.8",
"protein_id": "ENSP00000369424.4",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 469,
"cds_start": 436,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000967933.1",
"protein_id": "ENSP00000637992.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 456,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000919338.1",
"protein_id": "ENSP00000589397.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 435,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000863748.1",
"protein_id": "ENSP00000533807.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 433,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000919335.1",
"protein_id": "ENSP00000589394.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 433,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000919337.1",
"protein_id": "ENSP00000589396.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 433,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000967939.1",
"protein_id": "ENSP00000637998.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 428,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000863745.1",
"protein_id": "ENSP00000533804.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 425,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000919334.1",
"protein_id": "ENSP00000589393.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 425,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000863753.1",
"protein_id": "ENSP00000533812.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 421,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000404022.5",
"protein_id": "ENSP00000386068.1",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 416,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000863750.1",
"protein_id": "ENSP00000533809.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 416,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000863752.1",
"protein_id": "ENSP00000533811.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 413,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000863751.1",
"protein_id": "ENSP00000533810.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 399,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000863746.1",
"protein_id": "ENSP00000533805.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 394,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000967938.1",
"protein_id": "ENSP00000637997.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 390,
"cds_start": 304,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000967937.1",
"protein_id": "ENSP00000637996.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 388,
"cds_start": 304,
"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": "ENST00000967937.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000863754.1",
"protein_id": "ENSP00000533813.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 367,
"cds_start": 304,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863754.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Ser",
"transcript": "ENST00000863749.1",
"protein_id": "ENSP00000533808.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 331,
"cds_start": 304,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863749.1"
},
{
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"aa_alt": "S",
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{
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],
"gene_symbol": "RBBP7",
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "XL",
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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
}