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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: 6-43520962-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43520962&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43520962,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_203290.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.836G>C",
"hgvs_p": "p.Arg279Pro",
"transcript": "NM_203290.4",
"protein_id": "NP_976035.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 346,
"cds_start": 836,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 857,
"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": "P",
"canonical": true,
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.836G>C",
"hgvs_p": "p.Arg279Pro",
"transcript": "ENST00000642195.1",
"protein_id": "ENSP00000496044.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 346,
"cds_start": 836,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 857,
"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": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.836G>C",
"hgvs_p": "p.Arg279Pro",
"transcript": "ENST00000304004.7",
"protein_id": "ENSP00000307212.3",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 342,
"cds_start": 836,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304004.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.857G>C",
"hgvs_p": "p.Arg286Pro",
"transcript": "ENST00000945270.1",
"protein_id": "ENSP00000615329.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 353,
"cds_start": 857,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945270.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.836G>C",
"hgvs_p": "p.Arg279Pro",
"transcript": "ENST00000908069.1",
"protein_id": "ENSP00000578128.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 346,
"cds_start": 836,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908069.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.833G>C",
"hgvs_p": "p.Arg278Pro",
"transcript": "ENST00000908070.1",
"protein_id": "ENSP00000578129.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 345,
"cds_start": 833,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908070.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.833G>C",
"hgvs_p": "p.Arg278Pro",
"transcript": "ENST00000930067.1",
"protein_id": "ENSP00000600126.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 345,
"cds_start": 833,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930067.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.836G>C",
"hgvs_p": "p.Arg279Pro",
"transcript": "ENST00000646433.1",
"protein_id": "ENSP00000494368.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 343,
"cds_start": 836,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646433.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Arg276Pro",
"transcript": "ENST00000930069.1",
"protein_id": "ENSP00000600128.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 343,
"cds_start": 827,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930069.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.836G>C",
"hgvs_p": "p.Arg279Pro",
"transcript": "NM_001318876.2",
"protein_id": "NP_001305805.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 342,
"cds_start": 836,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318876.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.836G>C",
"hgvs_p": "p.Arg279Pro",
"transcript": "ENST00000607635.2",
"protein_id": "ENSP00000496683.1",
"transcript_support_level": 6,
"aa_start": 279,
"aa_end": null,
"aa_length": 342,
"cds_start": 836,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607635.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "ENST00000908071.1",
"protein_id": "ENSP00000578130.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 327,
"cds_start": 779,
"cds_end": null,
"cds_length": 984,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908071.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "ENST00000930070.1",
"protein_id": "ENSP00000600129.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 327,
"cds_start": 779,
"cds_end": null,
"cds_length": 984,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930070.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.836G>C",
"hgvs_p": "p.Arg279Pro",
"transcript": "NM_001363658.2",
"protein_id": "NP_001350587.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 307,
"cds_start": 836,
"cds_end": null,
"cds_length": 924,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363658.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.836G>C",
"hgvs_p": "p.Arg279Pro",
"transcript": "ENST00000643341.1",
"protein_id": "ENSP00000496018.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 307,
"cds_start": 836,
"cds_end": null,
"cds_length": 924,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643341.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.686G>C",
"hgvs_p": "p.Arg229Pro",
"transcript": "ENST00000372344.6",
"protein_id": "ENSP00000361419.2",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 296,
"cds_start": 686,
"cds_end": null,
"cds_length": 891,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372344.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.686G>C",
"hgvs_p": "p.Arg229Pro",
"transcript": "ENST00000643799.1",
"protein_id": "ENSP00000494529.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 296,
"cds_start": 686,
"cds_end": null,
"cds_length": 891,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643799.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.683G>C",
"hgvs_p": "p.Arg228Pro",
"transcript": "ENST00000930068.1",
"protein_id": "ENSP00000600127.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 295,
"cds_start": 683,
"cds_end": null,
"cds_length": 888,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930068.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.683G>C",
"hgvs_p": "p.Arg228Pro",
"transcript": "ENST00000930073.1",
"protein_id": "ENSP00000600132.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 295,
"cds_start": 683,
"cds_end": null,
"cds_length": 888,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930073.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.671G>C",
"hgvs_p": "p.Arg224Pro",
"transcript": "ENST00000646188.1",
"protein_id": "ENSP00000496001.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 291,
"cds_start": 671,
"cds_end": null,
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"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646188.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.548G>C",
"hgvs_p": "p.Arg183Pro",
"transcript": "ENST00000930072.1",
"protein_id": "ENSP00000600131.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 250,
"cds_start": 548,
"cds_end": null,
"cds_length": 753,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930072.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "ENST00000930071.1",
"protein_id": "ENSP00000600130.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 185,
"cds_start": 353,
"cds_end": null,
"cds_length": 558,
"cdna_start": 363,
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],
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"computational_prediction_selected": "Pathogenic",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"pathogenic_score": 6,
"criteria": [
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"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_203290.4",
"gene_symbol": "POLR1C",
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"effects": [
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"inheritance_mode": "AR,AD",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}