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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: 21-32604237-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32604237&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32604237,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001350338.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "NM_021254.4",
"protein_id": "NP_067077.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 290,
"cds_start": 422,
"cds_end": null,
"cds_length": 873,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": "ENST00000290155.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021254.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "ENST00000290155.8",
"protein_id": "ENSP00000290155.3",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 290,
"cds_start": 422,
"cds_end": null,
"cds_length": 873,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": "NM_021254.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290155.8"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "ENST00000673807.1",
"protein_id": "ENSP00000501088.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 389,
"cds_start": 422,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673807.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "ENST00000382549.8",
"protein_id": "ENSP00000371989.4",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 245,
"cds_start": 422,
"cds_end": null,
"cds_length": 738,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382549.8"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "NM_001350338.2",
"protein_id": "NP_001337267.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 389,
"cds_start": 422,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350338.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "ENST00000673985.1",
"protein_id": "ENSP00000500984.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 373,
"cds_start": 422,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673985.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Asp173Ala",
"transcript": "ENST00000877680.1",
"protein_id": "ENSP00000547739.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 322,
"cds_start": 518,
"cds_end": null,
"cds_length": 969,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877680.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asp172Ala",
"transcript": "ENST00000926992.1",
"protein_id": "ENSP00000597051.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 321,
"cds_start": 515,
"cds_end": null,
"cds_length": 966,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926992.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Asp170Ala",
"transcript": "ENST00000877679.1",
"protein_id": "ENSP00000547738.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 319,
"cds_start": 509,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877679.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "ENST00000673945.1",
"protein_id": "ENSP00000501020.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 317,
"cds_start": 422,
"cds_end": null,
"cds_length": 954,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673945.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.473A>C",
"hgvs_p": "p.Asp158Ala",
"transcript": "ENST00000926995.1",
"protein_id": "ENSP00000597054.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 307,
"cds_start": 473,
"cds_end": null,
"cds_length": 924,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926995.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.458A>C",
"hgvs_p": "p.Asp153Ala",
"transcript": "ENST00000926993.1",
"protein_id": "ENSP00000597052.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 302,
"cds_start": 458,
"cds_end": null,
"cds_length": 909,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926993.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.323A>C",
"hgvs_p": "p.Asp108Ala",
"transcript": "ENST00000431216.5",
"protein_id": "ENSP00000391771.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 295,
"cds_start": 323,
"cds_end": null,
"cds_length": 889,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431216.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Asp173Ala",
"transcript": "ENST00000926989.1",
"protein_id": "ENSP00000597048.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 290,
"cds_start": 518,
"cds_end": null,
"cds_length": 873,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926989.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "ENST00000926990.1",
"protein_id": "ENSP00000597049.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 287,
"cds_start": 422,
"cds_end": null,
"cds_length": 864,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926990.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "NM_001350337.2",
"protein_id": "NP_001337266.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 269,
"cds_start": 422,
"cds_end": null,
"cds_length": 810,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350337.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "NM_001350336.2",
"protein_id": "NP_001337265.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 258,
"cds_start": 422,
"cds_end": null,
"cds_length": 777,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350336.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "ENST00000440966.5",
"protein_id": "ENSP00000411467.1",
"transcript_support_level": 3,
"aa_start": 141,
"aa_end": null,
"aa_length": 258,
"cds_start": 422,
"cds_end": null,
"cds_length": 777,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440966.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.134A>C",
"hgvs_p": "p.Asp45Ala",
"transcript": "ENST00000553001.2",
"protein_id": "ENSP00000446874.2",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 252,
"cds_start": 134,
"cds_end": null,
"cds_length": 759,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553001.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "NM_001350335.2",
"protein_id": "NP_001337264.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 245,
"cds_start": 422,
"cds_end": null,
"cds_length": 738,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350335.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.254A>C",
"hgvs_p": "p.Asp85Ala",
"transcript": "ENST00000877678.1",
"protein_id": "ENSP00000547737.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 234,
"cds_start": 254,
"cds_end": null,
"cds_length": 705,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877678.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.422A>C",
"hgvs_p": "p.Asp141Ala",
"transcript": "ENST00000926991.1",
"protein_id": "ENSP00000597050.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 214,
"cds_start": 422,
"cds_end": null,
"cds_length": 645,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1184,
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{
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{
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],
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.097,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "c.422A>C",
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{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
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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
}