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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: 6-43519782-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43519782&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43519782,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_203290.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "NM_203290.4",
"protein_id": "NP_976035.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 346,
"cds_start": 326,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": "ENST00000642195.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203290.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000642195.1",
"protein_id": "ENSP00000496044.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 346,
"cds_start": 326,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": "NM_203290.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642195.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000304004.7",
"protein_id": "ENSP00000307212.3",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 342,
"cds_start": 326,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304004.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000945270.1",
"protein_id": "ENSP00000615329.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 353,
"cds_start": 326,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945270.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000908069.1",
"protein_id": "ENSP00000578128.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 346,
"cds_start": 326,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908069.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000908070.1",
"protein_id": "ENSP00000578129.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 345,
"cds_start": 326,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908070.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000930067.1",
"protein_id": "ENSP00000600126.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 345,
"cds_start": 326,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930067.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000646433.1",
"protein_id": "ENSP00000494368.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 343,
"cds_start": 326,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646433.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000930069.1",
"protein_id": "ENSP00000600128.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 343,
"cds_start": 326,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930069.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "NM_001318876.2",
"protein_id": "NP_001305805.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 342,
"cds_start": 326,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318876.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000607635.2",
"protein_id": "ENSP00000496683.1",
"transcript_support_level": 6,
"aa_start": 109,
"aa_end": null,
"aa_length": 342,
"cds_start": 326,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607635.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000908071.1",
"protein_id": "ENSP00000578130.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 327,
"cds_start": 326,
"cds_end": null,
"cds_length": 984,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908071.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.269G>T",
"hgvs_p": "p.Arg90Leu",
"transcript": "ENST00000930070.1",
"protein_id": "ENSP00000600129.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 327,
"cds_start": 269,
"cds_end": null,
"cds_length": 984,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930070.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "NM_001363658.2",
"protein_id": "NP_001350587.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 307,
"cds_start": 326,
"cds_end": null,
"cds_length": 924,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363658.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000643341.1",
"protein_id": "ENSP00000496018.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 307,
"cds_start": 326,
"cds_end": null,
"cds_length": 924,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643341.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000372344.6",
"protein_id": "ENSP00000361419.2",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 296,
"cds_start": 326,
"cds_end": null,
"cds_length": 891,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 1119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372344.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000643799.1",
"protein_id": "ENSP00000494529.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 296,
"cds_start": 326,
"cds_end": null,
"cds_length": 891,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643799.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000930068.1",
"protein_id": "ENSP00000600127.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 295,
"cds_start": 326,
"cds_end": null,
"cds_length": 888,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930068.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000930073.1",
"protein_id": "ENSP00000600132.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 295,
"cds_start": 326,
"cds_end": null,
"cds_length": 888,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930073.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Arg54Leu",
"transcript": "ENST00000646188.1",
"protein_id": "ENSP00000496001.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 291,
"cds_start": 161,
"cds_end": null,
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"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646188.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.323G>T",
"hgvs_p": "p.Arg108Leu",
"transcript": "ENST00000423780.1",
"protein_id": "ENSP00000409536.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 138,
"cds_start": 323,
"cds_end": null,
"cds_length": 417,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423780.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Arg54Leu",
"transcript": "ENST00000428025.6",
"protein_id": "ENSP00000395401.2",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 123,
"cds_start": 161,
"cds_end": null,
"cds_length": 373,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 576,
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"verdict": "Likely_pathogenic",
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{
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"verdict": "Likely_pathogenic",
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],
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}