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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: 8-67137574-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=67137574&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 67137574,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000678616.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1946C>T",
"hgvs_p": "p.Pro649Leu",
"transcript": "NM_001382391.1",
"protein_id": "NP_001369320.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1946,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": "ENST00000678616.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1946C>T",
"hgvs_p": "p.Pro649Leu",
"transcript": "ENST00000678616.1",
"protein_id": "ENSP00000504733.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1946,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": "NM_001382391.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2012C>T",
"hgvs_p": "p.Pro671Leu",
"transcript": "ENST00000262210.11",
"protein_id": "ENSP00000262210.6",
"transcript_support_level": 1,
"aa_start": 671,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2012,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1049C>T",
"hgvs_p": "p.Pro350Leu",
"transcript": "ENST00000519668.1",
"protein_id": "ENSP00000430092.1",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 876,
"cds_start": 1049,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2054C>T",
"hgvs_p": "p.Pro685Leu",
"transcript": "ENST00000676605.1",
"protein_id": "ENSP00000503605.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 1262,
"cds_start": 2054,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2054C>T",
"hgvs_p": "p.Pro685Leu",
"transcript": "ENST00000678542.1",
"protein_id": "ENSP00000503878.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 1262,
"cds_start": 2054,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2036C>T",
"hgvs_p": "p.Pro679Leu",
"transcript": "ENST00000674993.1",
"protein_id": "ENSP00000502454.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2036,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2012C>T",
"hgvs_p": "p.Pro671Leu",
"transcript": "NM_001364869.1",
"protein_id": "NP_001351798.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2012,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Pro644Leu",
"transcript": "NM_024790.7",
"protein_id": "NP_079066.5",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1221,
"cds_start": 1931,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Pro644Leu",
"transcript": "ENST00000676317.1",
"protein_id": "ENSP00000502047.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1221,
"cds_start": 1931,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1925C>T",
"hgvs_p": "p.Pro642Leu",
"transcript": "ENST00000676847.1",
"protein_id": "ENSP00000503336.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 1219,
"cds_start": 1925,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1913C>T",
"hgvs_p": "p.Pro638Leu",
"transcript": "ENST00000677592.1",
"protein_id": "ENSP00000504516.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1913,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 4864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1904C>T",
"hgvs_p": "p.Pro635Leu",
"transcript": "ENST00000676113.1",
"protein_id": "ENSP00000501645.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1212,
"cds_start": 1904,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1865C>T",
"hgvs_p": "p.Pro622Leu",
"transcript": "NM_001363131.2",
"protein_id": "NP_001350060.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1865,
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"cdna_start": 2022,
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"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1865C>T",
"hgvs_p": "p.Pro622Leu",
"transcript": "ENST00000675955.1",
"protein_id": "ENSP00000501676.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1865,
"cds_end": null,
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"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Pro611Leu",
"transcript": "NM_001364870.1",
"protein_id": "NP_001351799.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1832,
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"cdna_start": 1839,
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"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Pro611Leu",
"transcript": "ENST00000676882.1",
"protein_id": "ENSP00000504342.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1832,
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"cds_length": 3567,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1823C>T",
"hgvs_p": "p.Pro608Leu",
"transcript": "ENST00000678645.1",
"protein_id": "ENSP00000504031.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 1185,
"cds_start": 1823,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 1949,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Pro644Leu",
"transcript": "NM_001438330.1",
"protein_id": "NP_001425259.1",
"transcript_support_level": null,
"aa_start": 644,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1904C>T",
"hgvs_p": "p.Pro635Leu",
"transcript": "NM_001363132.2",
"protein_id": "NP_001350061.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
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"cds_start": 1904,
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"cdna_start": 2061,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1904C>T",
"hgvs_p": "p.Pro635Leu",
"transcript": "ENST00000675869.1",
"protein_id": "ENSP00000502747.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1904,
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"cds_length": 3486,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Pro611Leu",
"transcript": "ENST00000676471.1",
"protein_id": "ENSP00000503711.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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},
{
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],
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}
],
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"dbsnp": "rs376210928",
"frequency_reference_population": 0.000029300594,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.000027506,
"gnomad_genomes_af": 0.0000460345,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9186930060386658,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.723,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9485,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.747,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000678616.1",
"gene_symbol": "CSPP1",
"hgnc_id": 26193,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1946C>T",
"hgvs_p": "p.Pro649Leu"
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],
"clinvar_disease": "Joubert syndrome 21",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Joubert syndrome 21",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}