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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: 14-74292356-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74292356&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74292356,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000356924.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1049C>G",
"hgvs_p": "p.Thr350Arg",
"transcript": "NM_005050.4",
"protein_id": "NP_005041.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 606,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": "ENST00000356924.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1049C>G",
"hgvs_p": "p.Thr350Arg",
"transcript": "ENST00000356924.9",
"protein_id": "ENSP00000349396.4",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 606,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": "NM_005050.4",
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.*655C>G",
"hgvs_p": null,
"transcript": "ENST00000460308.6",
"protein_id": "ENSP00000436527.2",
"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": 1003,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.*575C>G",
"hgvs_p": null,
"transcript": "ENST00000469672.5",
"protein_id": "ENSP00000434626.1",
"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": 966,
"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": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.*750C>G",
"hgvs_p": null,
"transcript": "ENST00000553486.5",
"protein_id": "ENSP00000450611.1",
"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": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.*655C>G",
"hgvs_p": null,
"transcript": "ENST00000460308.6",
"protein_id": "ENSP00000436527.2",
"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": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.*575C>G",
"hgvs_p": null,
"transcript": "ENST00000469672.5",
"protein_id": "ENSP00000434626.1",
"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": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.*750C>G",
"hgvs_p": null,
"transcript": "ENST00000553486.5",
"protein_id": "ENSP00000450611.1",
"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": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1049C>G",
"hgvs_p": "p.Thr350Arg",
"transcript": "NM_020325.3",
"protein_id": "NP_064730.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 592,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1049C>G",
"hgvs_p": "p.Thr350Arg",
"transcript": "NM_001440752.1",
"protein_id": "NP_001427681.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 572,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.923C>G",
"hgvs_p": "p.Thr308Arg",
"transcript": "NM_001353591.2",
"protein_id": "NP_001340520.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 564,
"cds_start": 923,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.923C>G",
"hgvs_p": "p.Thr308Arg",
"transcript": "NM_001353592.2",
"protein_id": "NP_001340521.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 550,
"cds_start": 923,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1049C>G",
"hgvs_p": "p.Thr350Arg",
"transcript": "NM_001440753.1",
"protein_id": "NP_001427682.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 528,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.788C>G",
"hgvs_p": "p.Thr263Arg",
"transcript": "NM_001353593.2",
"protein_id": "NP_001340522.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 519,
"cds_start": 788,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.776C>G",
"hgvs_p": "p.Thr259Arg",
"transcript": "NM_001440754.1",
"protein_id": "NP_001427683.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 515,
"cds_start": 776,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.737C>G",
"hgvs_p": "p.Thr246Arg",
"transcript": "NM_001353594.2",
"protein_id": "NP_001340523.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 488,
"cds_start": 737,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Thr212Arg",
"transcript": "NM_001353595.2",
"protein_id": "NP_001340524.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 468,
"cds_start": 635,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Thr212Arg",
"transcript": "NM_001353596.2",
"protein_id": "NP_001340525.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 468,
"cds_start": 635,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Thr195Arg",
"transcript": "NM_001353597.2",
"protein_id": "NP_001340526.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 451,
"cds_start": 584,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Thr191Arg",
"transcript": "NM_001353598.2",
"protein_id": "NP_001340527.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 447,
"cds_start": 572,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Thr191Arg",
"transcript": "NM_001440755.1",
"protein_id": "NP_001427684.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 447,
"cds_start": 572,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Thr191Arg",
"transcript": "NM_020324.3",
"protein_id": "NP_064720.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 447,
"cds_start": 572,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Thr191Arg",
"transcript": "NM_001353599.2",
"protein_id": "NP_001340528.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
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],
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"computational_score_selected": 0.006796807050704956,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1947,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.612,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000356924.9",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1049C>G",
"hgvs_p": "p.Thr350Arg"
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{
"score": -20,
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"criteria": [
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"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000554532.2",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": " type cblJ,Methylmalonic acidemia with homocystinuria,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Methylmalonic acidemia with homocystinuria, type cblJ|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}