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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: 17-44320713-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44320713&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44320713,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000377095.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Tyr237Cys",
"transcript": "NM_001143780.3",
"protein_id": "NP_001137252.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 359,
"cds_start": 710,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": "ENST00000377095.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Tyr237Cys",
"transcript": "ENST00000377095.10",
"protein_id": "ENSP00000366299.4",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 359,
"cds_start": 710,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": "NM_001143780.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.686A>G",
"hgvs_p": "p.Tyr229Cys",
"transcript": "ENST00000225308.12",
"protein_id": "ENSP00000225308.8",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 351,
"cds_start": 686,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Tyr235Cys",
"transcript": "NM_001321241.2",
"protein_id": "NP_001308170.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 357,
"cds_start": 704,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.686A>G",
"hgvs_p": "p.Tyr229Cys",
"transcript": "NM_016016.4",
"protein_id": "NP_057100.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 351,
"cds_start": 686,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.686A>G",
"hgvs_p": "p.Tyr229Cys",
"transcript": "ENST00000590194.5",
"protein_id": "ENSP00000467681.1",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 351,
"cds_start": 686,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.641A>G",
"hgvs_p": "p.Tyr214Cys",
"transcript": "NM_001321240.2",
"protein_id": "NP_001308169.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 336,
"cds_start": 641,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.641A>G",
"hgvs_p": "p.Tyr214Cys",
"transcript": "ENST00000537904.6",
"protein_id": "ENSP00000444540.1",
"transcript_support_level": 2,
"aa_start": 214,
"aa_end": null,
"aa_length": 336,
"cds_start": 641,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Tyr144Cys",
"transcript": "ENST00000588767.5",
"protein_id": "ENSP00000466615.1",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 266,
"cds_start": 431,
"cds_end": null,
"cds_length": 801,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Tyr136Cys",
"transcript": "NM_001366726.1",
"protein_id": "NP_001353655.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 258,
"cds_start": 407,
"cds_end": null,
"cds_length": 777,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Tyr105Cys",
"transcript": "ENST00000586016.5",
"protein_id": "ENSP00000466676.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 227,
"cds_start": 314,
"cds_end": null,
"cds_length": 684,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Tyr243Cys",
"transcript": "XM_011524880.4",
"protein_id": "XP_011523182.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 365,
"cds_start": 728,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Tyr243Cys",
"transcript": "XM_047436234.1",
"protein_id": "XP_047292190.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 365,
"cds_start": 728,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Tyr235Cys",
"transcript": "XM_047436235.1",
"protein_id": "XP_047292191.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 357,
"cds_start": 704,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.659A>G",
"hgvs_p": "p.Tyr220Cys",
"transcript": "XM_047436236.1",
"protein_id": "XP_047292192.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 342,
"cds_start": 659,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.641A>G",
"hgvs_p": "p.Tyr214Cys",
"transcript": "XM_047436237.1",
"protein_id": "XP_047292193.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 336,
"cds_start": 641,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Tyr142Cys",
"transcript": "XM_047436238.1",
"protein_id": "XP_047292194.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 264,
"cds_start": 425,
"cds_end": null,
"cds_length": 795,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Tyr142Cys",
"transcript": "XM_047436239.1",
"protein_id": "XP_047292195.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 264,
"cds_start": 425,
"cds_end": null,
"cds_length": 795,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Tyr142Cys",
"transcript": "XM_047436240.1",
"protein_id": "XP_047292196.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 264,
"cds_start": 425,
"cds_end": null,
"cds_length": 795,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Tyr136Cys",
"transcript": "XM_047436241.1",
"protein_id": "XP_047292197.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 258,
"cds_start": 407,
"cds_end": null,
"cds_length": 777,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "n.1325A>G",
"hgvs_p": null,
"transcript": "ENST00000588315.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "n.1473A>G",
"hgvs_p": null,
"transcript": "ENST00000591006.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "n.109A>G",
"hgvs_p": null,
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},
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],
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},
{
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],
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}
],
"gene_symbol": "SLC25A39",
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"dbsnp": "rs759620735",
"frequency_reference_population": 0.000003098289,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273664,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9265575408935547,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.873,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8395,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.874,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000377095.10",
"gene_symbol": "SLC25A39",
"hgnc_id": 24279,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Tyr237Cys"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}