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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: 21-41801722-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41801722&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 41801722,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_022115.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2944G>T",
"hgvs_p": "p.Val982Leu",
"transcript": "NM_001040424.3",
"protein_id": "NP_001035514.2",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2944,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398548.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040424.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2944G>T",
"hgvs_p": "p.Val982Leu",
"transcript": "ENST00000398548.6",
"protein_id": "ENSP00000381556.2",
"transcript_support_level": 1,
"aa_start": 982,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2944,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040424.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398548.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3142G>T",
"hgvs_p": "p.Val1048Leu",
"transcript": "ENST00000269844.5",
"protein_id": "ENSP00000269844.4",
"transcript_support_level": 1,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269844.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3004G>T",
"hgvs_p": "p.Val1002Leu",
"transcript": "ENST00000422911.6",
"protein_id": "ENSP00000408592.2",
"transcript_support_level": 1,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422911.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*1395G>T",
"hgvs_p": null,
"transcript": "ENST00000441787.5",
"protein_id": "ENSP00000387958.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000441787.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.2944G>T",
"hgvs_p": null,
"transcript": "ENST00000447016.6",
"protein_id": "ENSP00000431410.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000447016.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*1395G>T",
"hgvs_p": null,
"transcript": "ENST00000449395.6",
"protein_id": "ENSP00000396943.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000449395.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.605G>T",
"hgvs_p": null,
"transcript": "ENST00000470586.5",
"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": "retained_intron",
"feature": "ENST00000470586.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.5101G>T",
"hgvs_p": null,
"transcript": "ENST00000486812.5",
"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": "retained_intron",
"feature": "ENST00000486812.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*1395G>T",
"hgvs_p": null,
"transcript": "ENST00000441787.5",
"protein_id": "ENSP00000387958.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000441787.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*1395G>T",
"hgvs_p": null,
"transcript": "ENST00000449395.6",
"protein_id": "ENSP00000396943.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000449395.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3142G>T",
"hgvs_p": "p.Val1048Leu",
"transcript": "NM_022115.7",
"protein_id": "NP_071398.5",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022115.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3004G>T",
"hgvs_p": "p.Val1002Leu",
"transcript": "NM_001282934.2",
"protein_id": "NP_001269863.2",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282934.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3004G>T",
"hgvs_p": "p.Val1002Leu",
"transcript": "ENST00000927550.1",
"protein_id": "ENSP00000597609.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927550.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3493G>T",
"hgvs_p": "p.Val1165Leu",
"transcript": "XM_011529683.2",
"protein_id": "XP_011527985.2",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529683.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3016G>T",
"hgvs_p": "p.Val1006Leu",
"transcript": "XM_011529681.4",
"protein_id": "XP_011527983.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3016,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529681.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3004G>T",
"hgvs_p": "p.Val1002Leu",
"transcript": "XM_011529675.2",
"protein_id": "XP_011527977.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529675.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3004G>T",
"hgvs_p": "p.Val1002Leu",
"transcript": "XM_011529676.3",
"protein_id": "XP_011527978.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529676.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3004G>T",
"hgvs_p": "p.Val1002Leu",
"transcript": "XM_011529677.3",
"protein_id": "XP_011527979.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529677.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3004G>T",
"hgvs_p": "p.Val1002Leu",
"transcript": "XM_011529678.3",
"protein_id": "XP_011527980.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529678.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3004G>T",
"hgvs_p": "p.Val1002Leu",
"transcript": "XM_011529679.3",
"protein_id": "XP_011527981.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529679.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
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"phenotype_combined": "not specified",
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}
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}