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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: 4-108027713-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=108027713&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 108027713,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000309522.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His",
"transcript": "NM_005327.7",
"protein_id": "NP_005318.6",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 314,
"cds_start": 662,
"cds_end": null,
"cds_length": 945,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": "ENST00000309522.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His",
"transcript": "ENST00000309522.8",
"protein_id": "ENSP00000312288.4",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 314,
"cds_start": 662,
"cds_end": null,
"cds_length": 945,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": "NM_005327.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280His",
"transcript": "ENST00000505878.4",
"protein_id": "ENSP00000425952.2",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 390,
"cds_start": 839,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His",
"transcript": "ENST00000603302.5",
"protein_id": "ENSP00000474560.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 331,
"cds_start": 662,
"cds_end": null,
"cds_length": 996,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His",
"transcript": "NM_001184705.4",
"protein_id": "NP_001171634.3",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 331,
"cds_start": 662,
"cds_end": null,
"cds_length": 996,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225His",
"transcript": "NM_001331027.2",
"protein_id": "NP_001317956.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 318,
"cds_start": 674,
"cds_end": null,
"cds_length": 957,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225His",
"transcript": "ENST00000626637.2",
"protein_id": "ENSP00000486771.1",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 318,
"cds_start": 674,
"cds_end": null,
"cds_length": 957,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His",
"transcript": "ENST00000403312.6",
"protein_id": "ENSP00000385638.3",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 317,
"cds_start": 662,
"cds_end": null,
"cds_length": 954,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"transcript": "ENST00000638559.1",
"protein_id": "ENSP00000490998.1",
"transcript_support_level": 5,
"aa_start": 173,
"aa_end": null,
"aa_length": 266,
"cds_start": 518,
"cds_end": null,
"cds_length": 801,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000682373.1",
"protein_id": "ENSP00000508283.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 200,
"cds_start": 320,
"cds_end": null,
"cds_length": 603,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83His",
"transcript": "ENST00000638621.1",
"protein_id": "ENSP00000491581.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 176,
"cds_start": 248,
"cds_end": null,
"cds_length": 531,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 741,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.4872G>A",
"hgvs_p": null,
"transcript": "ENST00000507260.3",
"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": 6258,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.1650G>A",
"hgvs_p": null,
"transcript": "ENST00000510728.6",
"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": 2948,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.95G>A",
"hgvs_p": null,
"transcript": "ENST00000514776.3",
"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": 6677,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.1849G>A",
"hgvs_p": null,
"transcript": "ENST00000515462.7",
"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": 3325,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.674G>A",
"hgvs_p": null,
"transcript": "ENST00000638648.2",
"protein_id": "ENSP00000507949.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1976,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.662G>A",
"hgvs_p": null,
"transcript": "ENST00000639146.1",
"protein_id": "ENSP00000492345.1",
"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": 1964,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*97G>A",
"hgvs_p": null,
"transcript": "ENST00000639335.1",
"protein_id": "ENSP00000491310.1",
"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": 1327,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*136G>A",
"hgvs_p": null,
"transcript": "ENST00000640048.1",
"protein_id": "ENSP00000492009.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1670,
"mane_select": null,
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"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*757G>A",
"hgvs_p": null,
"transcript": "ENST00000640060.1",
"protein_id": "ENSP00000492734.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
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"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.748G>A",
"hgvs_p": null,
"transcript": "ENST00000640201.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.4872G>A",
"hgvs_p": null,
"transcript": "ENST00000640752.2",
"protein_id": null,
"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": 5955,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*97G>A",
"hgvs_p": null,
"transcript": "ENST00000682067.1",
"protein_id": "ENSP00000507544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
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"dbsnp": "rs76476980",
"frequency_reference_population": 0.0006211867,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.017106831073760986,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.91,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.372,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.148,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.14,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 9,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000309522.8",
"gene_symbol": "HADH",
"hgnc_id": 4799,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His"
}
],
"clinvar_disease": " 4, familial,Deficiency of 3-hydroxyacyl-CoA dehydrogenase,Hyperinsulinemic hypoglycemia,Monogenic diabetes,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:3 B:5",
"phenotype_combined": "Monogenic diabetes|not provided|Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Deficiency of 3-hydroxyacyl-CoA dehydrogenase;Hyperinsulinemic hypoglycemia, familial, 4|Hyperinsulinemic hypoglycemia, familial, 4|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}