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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: 1-155326819-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155326819&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155326819,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001105203.2",
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "NM_001105203.2",
"protein_id": "NP_001098673.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 902,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368352.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105203.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "ENST00000368352.10",
"protein_id": "ENSP00000357336.5",
"transcript_support_level": 2,
"aa_start": 701,
"aa_end": null,
"aa_length": 902,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105203.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368352.10"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Trp",
"transcript": "ENST00000368347.8",
"protein_id": "ENSP00000357331.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 492,
"cds_start": 871,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368347.8"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Trp",
"transcript": "ENST00000292254.8",
"protein_id": "ENSP00000292254.4",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 433,
"cds_start": 694,
"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": "ENST00000292254.8"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Trp",
"transcript": "ENST00000368349.8",
"protein_id": "ENSP00000357333.4",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 433,
"cds_start": 694,
"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": "ENST00000368349.8"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Arg10Trp",
"transcript": "ENST00000490373.5",
"protein_id": "ENSP00000484026.1",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 211,
"cds_start": 28,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490373.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.-146-79C>T",
"hgvs_p": null,
"transcript": "ENST00000471876.5",
"protein_id": "ENSP00000482409.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471876.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "ENST00000696599.1",
"protein_id": "ENSP00000512744.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2512,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696599.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "ENST00000878375.1",
"protein_id": "ENSP00000548434.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 997,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878375.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "ENST00000878373.1",
"protein_id": "ENSP00000548432.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 902,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878373.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "ENST00000878374.1",
"protein_id": "ENSP00000548433.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 902,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878374.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "ENST00000925571.1",
"protein_id": "ENSP00000595630.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 902,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925571.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "ENST00000955292.1",
"protein_id": "ENSP00000625351.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 902,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955292.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "ENST00000878376.1",
"protein_id": "ENSP00000548435.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 860,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878376.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "ENST00000878377.1",
"protein_id": "ENSP00000548436.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 860,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878377.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Trp",
"transcript": "NM_001105205.1",
"protein_id": "NP_001098675.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 492,
"cds_start": 871,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105205.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Trp",
"transcript": "NM_001278230.2",
"protein_id": "NP_001265159.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 433,
"cds_start": 694,
"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": "NM_001278230.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Trp",
"transcript": "NM_014328.4",
"protein_id": "NP_055143.2",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 433,
"cds_start": 694,
"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": "NM_014328.4"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226Trp",
"transcript": "NM_001278228.1",
"protein_id": "NP_001265157.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 427,
"cds_start": 676,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278228.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Trp",
"transcript": "NM_001278227.1",
"protein_id": "NP_001265156.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 400,
"cds_start": 595,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278227.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Trp",
"transcript": "ENST00000489860.5",
"protein_id": "ENSP00000479495.1",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 264,
"cds_start": 694,
"cds_end": null,
"cds_length": 797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489860.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Trp",
"transcript": "ENST00000485924.2",
"protein_id": "ENSP00000481669.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 223,
"cds_start": 361,
"cds_end": null,
"cds_length": 674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}