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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: 3-39502842-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=39502842&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 39502842,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001393704.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Ser",
"transcript": "NM_001393704.1",
"protein_id": "NP_001380633.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 183,
"cds_start": 514,
"cds_end": null,
"cds_length": 552,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 848,
"mane_select": "ENST00000684792.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Ser",
"transcript": "ENST00000684792.1",
"protein_id": "ENSP00000508923.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 183,
"cds_start": 514,
"cds_end": null,
"cds_length": 552,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 848,
"mane_select": "NM_001393704.1",
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "n.514C>A",
"hgvs_p": null,
"transcript": "ENST00000424090.5",
"protein_id": "ENSP00000389055.1",
"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": 1340,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "n.514C>A",
"hgvs_p": null,
"transcript": "ENST00000442631.5",
"protein_id": "ENSP00000413771.1",
"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": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.206+567C>A",
"hgvs_p": null,
"transcript": "ENST00000383754.7",
"protein_id": "ENSP00000373261.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "n.206+567C>A",
"hgvs_p": null,
"transcript": "ENST00000452959.6",
"protein_id": "ENSP00000405549.1",
"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": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.586C>A",
"hgvs_p": "p.Arg196Ser",
"transcript": "NM_001278322.2",
"protein_id": "NP_001265251.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 206,
"cds_start": 586,
"cds_end": null,
"cds_length": 621,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.586C>A",
"hgvs_p": "p.Arg196Ser",
"transcript": "ENST00000311042.10",
"protein_id": "ENSP00000312293.6",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 206,
"cds_start": 586,
"cds_end": null,
"cds_length": 621,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Ser",
"transcript": "NM_001278323.2",
"protein_id": "NP_001265252.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 183,
"cds_start": 514,
"cds_end": null,
"cds_length": 552,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Ser",
"transcript": "ENST00000420739.5",
"protein_id": "ENSP00000400491.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 183,
"cds_start": 514,
"cds_end": null,
"cds_length": 552,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Ser",
"transcript": "ENST00000441980.6",
"protein_id": "ENSP00000388827.2",
"transcript_support_level": 4,
"aa_start": 172,
"aa_end": null,
"aa_length": 183,
"cds_start": 514,
"cds_end": null,
"cds_length": 552,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Ser",
"transcript": "ENST00000682069.1",
"protein_id": "ENSP00000506926.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 183,
"cds_start": 514,
"cds_end": null,
"cds_length": 552,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 764,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "n.663C>A",
"hgvs_p": null,
"transcript": "NR_103504.2",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 6059,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "n.663C>A",
"hgvs_p": null,
"transcript": "NR_103505.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.206+567C>A",
"hgvs_p": null,
"transcript": "NM_182935.4",
"protein_id": "NP_891980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.206+567C>A",
"hgvs_p": null,
"transcript": "ENST00000415443.5",
"protein_id": "ENSP00000388148.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.206+567C>A",
"hgvs_p": null,
"transcript": "ENST00000428261.5",
"protein_id": "ENSP00000401312.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
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"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "c.206+567C>A",
"hgvs_p": null,
"transcript": "ENST00000447324.5",
"protein_id": "ENSP00000409730.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
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"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "n.61+567C>A",
"hgvs_p": null,
"transcript": "ENST00000479860.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "n.355+567C>A",
"hgvs_p": null,
"transcript": "NR_003090.3",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 5717,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"hgvs_c": "n.146-10541C>A",
"hgvs_p": null,
"transcript": "NR_103506.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285885",
"gene_hgnc_id": null,
"hgvs_c": "n.-85G>T",
"hgvs_p": null,
"transcript": "ENST00000846384.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MOBP",
"gene_hgnc_id": 7189,
"dbsnp": "rs1188260744",
"frequency_reference_population": 0.000012752863,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000127529,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.221334308385849,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.093,
"revel_prediction": "Benign",
"alphamissense_score": 0.5942,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.715,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001393704.1",
"gene_symbol": "MOBP",
"hgnc_id": 7189,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000846384.1",
"gene_symbol": "ENSG00000285885",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-85G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Amyotrophic lateral sclerosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Amyotrophic lateral sclerosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}