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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: 15-41518082-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41518082&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41518082,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015540.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3896G>T",
"hgvs_p": "p.Arg1299Leu",
"transcript": "NM_015540.4",
"protein_id": "NP_056355.2",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3896,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304330.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015540.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3896G>T",
"hgvs_p": "p.Arg1299Leu",
"transcript": "ENST00000304330.9",
"protein_id": "ENSP00000306123.4",
"transcript_support_level": 1,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3896,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015540.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304330.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "n.*1049G>T",
"hgvs_p": null,
"transcript": "ENST00000562303.5",
"protein_id": "ENSP00000455363.1",
"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": "ENST00000562303.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "n.912G>T",
"hgvs_p": null,
"transcript": "ENST00000565167.1",
"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": "ENST00000565167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "n.*1049G>T",
"hgvs_p": null,
"transcript": "ENST00000562303.5",
"protein_id": "ENSP00000455363.1",
"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": "ENST00000562303.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3896G>T",
"hgvs_p": "p.Arg1299Leu",
"transcript": "ENST00000867493.1",
"protein_id": "ENSP00000537552.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3896,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867493.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3896G>T",
"hgvs_p": "p.Arg1299Leu",
"transcript": "ENST00000912254.1",
"protein_id": "ENSP00000582313.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3896,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912254.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3896G>T",
"hgvs_p": "p.Arg1299Leu",
"transcript": "ENST00000912256.1",
"protein_id": "ENSP00000582315.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3896,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912256.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3875G>T",
"hgvs_p": "p.Arg1292Leu",
"transcript": "ENST00000912252.1",
"protein_id": "ENSP00000582311.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3875,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912252.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3830G>T",
"hgvs_p": "p.Arg1277Leu",
"transcript": "ENST00000867487.1",
"protein_id": "ENSP00000537546.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3830,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867487.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3830G>T",
"hgvs_p": "p.Arg1277Leu",
"transcript": "ENST00000912253.1",
"protein_id": "ENSP00000582312.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3830,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912253.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3797G>T",
"hgvs_p": "p.Arg1266Leu",
"transcript": "ENST00000867488.1",
"protein_id": "ENSP00000537547.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3797,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867488.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3794G>T",
"hgvs_p": "p.Arg1265Leu",
"transcript": "ENST00000867491.1",
"protein_id": "ENSP00000537550.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3794,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867491.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3743G>T",
"hgvs_p": "p.Arg1248Leu",
"transcript": "ENST00000912250.1",
"protein_id": "ENSP00000582309.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3743,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912250.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3737G>T",
"hgvs_p": "p.Arg1246Leu",
"transcript": "ENST00000867490.1",
"protein_id": "ENSP00000537549.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3737,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867490.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3716G>T",
"hgvs_p": "p.Arg1239Leu",
"transcript": "ENST00000867494.1",
"protein_id": "ENSP00000537553.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3716,
"cds_end": null,
"cds_length": 4002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867494.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3704G>T",
"hgvs_p": "p.Arg1235Leu",
"transcript": "ENST00000867492.1",
"protein_id": "ENSP00000537551.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3704,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867492.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3557G>T",
"hgvs_p": "p.Arg1186Leu",
"transcript": "ENST00000912251.1",
"protein_id": "ENSP00000582310.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3557,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912251.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3404G>T",
"hgvs_p": "p.Arg1135Leu",
"transcript": "ENST00000867489.1",
"protein_id": "ENSP00000537548.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3404,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867489.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3377G>T",
"hgvs_p": "p.Arg1126Leu",
"transcript": "ENST00000867495.1",
"protein_id": "ENSP00000537554.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3377,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867495.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3139G>T",
"hgvs_p": "p.Val1047Phe",
"transcript": "ENST00000561603.5",
"protein_id": "ENSP00000456207.1",
"transcript_support_level": 5,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561603.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.2537G>T",
"hgvs_p": "p.Arg846Leu",
"transcript": "ENST00000912255.1",
"protein_id": "ENSP00000582314.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 940,
"cds_start": 2537,
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}