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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: 21-32514918-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32514918&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32514918,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_058187.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "NM_058187.5",
"protein_id": "NP_478067.2",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 441,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": "ENST00000300255.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "ENST00000300255.7",
"protein_id": "ENSP00000300255.2",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 441,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": "NM_058187.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Cys",
"transcript": "ENST00000382699.7",
"protein_id": "ENSP00000372146.3",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 438,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.*644C>T",
"hgvs_p": null,
"transcript": "ENST00000437338.5",
"protein_id": "ENSP00000389291.1",
"transcript_support_level": 1,
"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": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.*644C>T",
"hgvs_p": null,
"transcript": "ENST00000437338.5",
"protein_id": "ENSP00000389291.1",
"transcript_support_level": 1,
"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": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Cys",
"transcript": "NM_001286556.2",
"protein_id": "NP_001273485.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 438,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304Cys",
"transcript": "ENST00000401402.7",
"protein_id": "ENSP00000384594.3",
"transcript_support_level": 5,
"aa_start": 304,
"aa_end": null,
"aa_length": 393,
"cds_start": 910,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257Cys",
"transcript": "NM_001320745.2",
"protein_id": "NP_001307674.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 346,
"cds_start": 769,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Arg245Cys",
"transcript": "NM_001320744.2",
"protein_id": "NP_001307673.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 334,
"cds_start": 733,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Cys",
"transcript": "XM_006724038.4",
"protein_id": "XP_006724101.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 440,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Cys",
"transcript": "XM_017028418.2",
"protein_id": "XP_016883907.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 440,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Arg348Cys",
"transcript": "XM_047440933.1",
"protein_id": "XP_047296889.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 437,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "XM_017028419.2",
"protein_id": "XP_016883908.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 414,
"cds_start": 973,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_005261019.5",
"protein_id": "XP_005261076.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 384,
"cds_start": 883,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257Cys",
"transcript": "XM_011529669.4",
"protein_id": "XP_011527971.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 346,
"cds_start": 769,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 9756,
"cdna_end": null,
"cdna_length": 10225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257Cys",
"transcript": "XM_017028420.2",
"protein_id": "XP_016883909.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 346,
"cds_start": 769,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242Cys",
"transcript": "XM_017028422.2",
"protein_id": "XP_016883911.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 331,
"cds_start": 724,
"cds_end": null,
"cds_length": 996,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Arg218Cys",
"transcript": "XM_017028423.2",
"protein_id": "XP_016883912.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 307,
"cds_start": 652,
"cds_end": null,
"cds_length": 924,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.*500C>T",
"hgvs_p": null,
"transcript": "ENST00000435323.5",
"protein_id": "ENSP00000407190.1",
"transcript_support_level": 5,
"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": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.*197C>T",
"hgvs_p": null,
"transcript": "ENST00000457807.5",
"protein_id": "ENSP00000401547.1",
"transcript_support_level": 5,
"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": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.2021C>T",
"hgvs_p": null,
"transcript": "ENST00000464037.5",
"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": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.249C>T",
"hgvs_p": null,
"transcript": "ENST00000485488.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.996C>T",
"hgvs_p": null,
"transcript": "NR_104472.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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{
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},
{
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}
],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -10,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -10,
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"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_058187.5",
"gene_symbol": "EVA1C",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg352Cys"
},
{
"score": -10,
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"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000674072.1",
"gene_symbol": "CFAP298-TCP10L",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*393-17123G>A",
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},
{
"score": -10,
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"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000673907.1",
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"effects": [
"intron_variant"
],
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}