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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: 19-35766839-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35766839&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35766839,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438802.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Trp",
"transcript": "NM_001367856.1",
"protein_id": "NP_001354785.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 724,
"cds_start": 841,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646935.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367856.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Trp",
"transcript": "ENST00000646935.2",
"protein_id": "ENSP00000496769.2",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 724,
"cds_start": 841,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367856.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646935.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Trp",
"transcript": "ENST00000396908.10",
"protein_id": "ENSP00000380116.5",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 480,
"cds_start": 841,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396908.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Trp",
"transcript": "ENST00000696041.1",
"protein_id": "ENSP00000512346.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 795,
"cds_start": 841,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696041.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Arg270Trp",
"transcript": "ENST00000696042.1",
"protein_id": "ENSP00000512347.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 791,
"cds_start": 808,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696042.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Trp",
"transcript": "NM_001438802.1",
"protein_id": "NP_001425731.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 730,
"cds_start": 838,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438802.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Trp",
"transcript": "NM_001395458.1",
"protein_id": "NP_001382387.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 724,
"cds_start": 841,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395458.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Trp",
"transcript": "NM_001395450.1",
"protein_id": "NP_001382379.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 723,
"cds_start": 838,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395450.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Arg270Trp",
"transcript": "NM_001438803.1",
"protein_id": "NP_001425732.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 713,
"cds_start": 808,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438803.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"transcript": "NM_001395451.1",
"protein_id": "NP_001382380.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 712,
"cds_start": 805,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395451.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181Trp",
"transcript": "ENST00000696040.1",
"protein_id": "ENSP00000512345.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 702,
"cds_start": 541,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696040.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Trp",
"transcript": "NM_001395452.1",
"protein_id": "NP_001382381.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 638,
"cds_start": 583,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395452.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Arg185Trp",
"transcript": "NM_001395453.1",
"protein_id": "NP_001382382.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 628,
"cds_start": 553,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395453.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "NM_001438804.1",
"protein_id": "NP_001425733.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 623,
"cds_start": 538,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438804.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Trp",
"transcript": "NM_001395454.1",
"protein_id": "NP_001382383.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 613,
"cds_start": 508,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395454.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Trp",
"transcript": "NM_001039887.3",
"protein_id": "NP_001034976.2",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 480,
"cds_start": 841,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039887.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.586C>T",
"hgvs_p": "p.Arg196Trp",
"transcript": "NM_001395455.1",
"protein_id": "NP_001382384.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 399,
"cds_start": 586,
"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": "NM_001395455.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Trp",
"transcript": "XM_011526528.2",
"protein_id": "XP_011524830.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 802,
"cds_start": 841,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526528.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Trp",
"transcript": "XM_011526529.4",
"protein_id": "XP_011524831.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 801,
"cds_start": 838,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526529.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Trp",
"transcript": "XM_011526530.2",
"protein_id": "XP_011524832.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 795,
"cds_start": 841,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526530.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Trp",
"transcript": "XM_047438258.1",
"protein_id": "XP_047294214.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 794,
"cds_start": 838,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438258.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Arg270Trp",
"transcript": "XM_011526531.2",
"protein_id": "XP_011524833.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 791,
"cds_start": 808,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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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
}