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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: 4-100415922-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=100415922&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 100415922,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016242.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "NM_016242.4",
"protein_id": "NP_057326.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 261,
"cds_start": 727,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296420.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016242.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000296420.9",
"protein_id": "ENSP00000296420.4",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 261,
"cds_start": 727,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016242.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296420.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Val160Ile",
"transcript": "ENST00000305864.7",
"protein_id": "ENSP00000304780.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 178,
"cds_start": 478,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305864.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000956441.1",
"protein_id": "ENSP00000626500.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 320,
"cds_start": 727,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956441.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000956445.1",
"protein_id": "ENSP00000626504.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 320,
"cds_start": 727,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956445.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000956443.1",
"protein_id": "ENSP00000626502.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 270,
"cds_start": 727,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956443.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000897251.1",
"protein_id": "ENSP00000567310.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 261,
"cds_start": 727,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897251.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000897260.1",
"protein_id": "ENSP00000567319.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 261,
"cds_start": 727,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897260.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000897261.1",
"protein_id": "ENSP00000567320.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 261,
"cds_start": 727,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897261.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Ile",
"transcript": "ENST00000956442.1",
"protein_id": "ENSP00000626501.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 258,
"cds_start": 718,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956442.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Val230Ile",
"transcript": "NM_001159694.2",
"protein_id": "NP_001153166.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 248,
"cds_start": 688,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159694.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Val230Ile",
"transcript": "ENST00000511970.5",
"protein_id": "ENSP00000422432.1",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 248,
"cds_start": 688,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511970.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Val230Ile",
"transcript": "ENST00000956446.1",
"protein_id": "ENSP00000626505.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 248,
"cds_start": 688,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956446.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Val223Ile",
"transcript": "ENST00000897252.1",
"protein_id": "ENSP00000567311.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 241,
"cds_start": 667,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897252.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Val223Ile",
"transcript": "ENST00000956449.1",
"protein_id": "ENSP00000626508.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 241,
"cds_start": 667,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956449.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Ile",
"transcript": "ENST00000897257.1",
"protein_id": "ENSP00000567316.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 237,
"cds_start": 655,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897257.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Val212Ile",
"transcript": "ENST00000897259.1",
"protein_id": "ENSP00000567318.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 230,
"cds_start": 634,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897259.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Val202Ile",
"transcript": "ENST00000897255.1",
"protein_id": "ENSP00000567314.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 220,
"cds_start": 604,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897255.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Val202Ile",
"transcript": "ENST00000956447.1",
"protein_id": "ENSP00000626506.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 220,
"cds_start": 604,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956447.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Val202Ile",
"transcript": "ENST00000956448.1",
"protein_id": "ENSP00000626507.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 220,
"cds_start": 604,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956448.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Val191Ile",
"transcript": "ENST00000897249.1",
"protein_id": "ENSP00000567308.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 209,
"cds_start": 571,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897249.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "ENST00000897256.1",
"protein_id": "ENSP00000567315.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 197,
"cds_start": 535,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897256.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
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],
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"dbsnp": "rs186967769",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.033173322677612305,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.223,
"revel_prediction": "Benign",
"alphamissense_score": 0.3428,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_016242.4",
"gene_symbol": "EMCN",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}