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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: 4-100415933-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=100415933&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 100415933,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016242.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"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.716A>G",
"hgvs_p": "p.Lys239Arg",
"transcript": "NM_016242.4",
"protein_id": "NP_057326.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 261,
"cds_start": 716,
"cds_end": null,
"cds_length": 786,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": "ENST00000296420.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016242.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.716A>G",
"hgvs_p": "p.Lys239Arg",
"transcript": "ENST00000296420.9",
"protein_id": "ENSP00000296420.4",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 261,
"cds_start": 716,
"cds_end": null,
"cds_length": 786,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": "NM_016242.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296420.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.467A>G",
"hgvs_p": "p.Lys156Arg",
"transcript": "ENST00000305864.7",
"protein_id": "ENSP00000304780.3",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 178,
"cds_start": 467,
"cds_end": null,
"cds_length": 537,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305864.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.716A>G",
"hgvs_p": "p.Lys239Arg",
"transcript": "ENST00000956441.1",
"protein_id": "ENSP00000626500.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 320,
"cds_start": 716,
"cds_end": null,
"cds_length": 963,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956441.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.716A>G",
"hgvs_p": "p.Lys239Arg",
"transcript": "ENST00000956445.1",
"protein_id": "ENSP00000626504.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 320,
"cds_start": 716,
"cds_end": null,
"cds_length": 963,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956445.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.716A>G",
"hgvs_p": "p.Lys239Arg",
"transcript": "ENST00000956443.1",
"protein_id": "ENSP00000626502.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 716,
"cds_end": null,
"cds_length": 813,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956443.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.716A>G",
"hgvs_p": "p.Lys239Arg",
"transcript": "ENST00000897251.1",
"protein_id": "ENSP00000567310.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 261,
"cds_start": 716,
"cds_end": null,
"cds_length": 786,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897251.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.716A>G",
"hgvs_p": "p.Lys239Arg",
"transcript": "ENST00000897260.1",
"protein_id": "ENSP00000567319.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 261,
"cds_start": 716,
"cds_end": null,
"cds_length": 786,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897260.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.716A>G",
"hgvs_p": "p.Lys239Arg",
"transcript": "ENST00000897261.1",
"protein_id": "ENSP00000567320.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 261,
"cds_start": 716,
"cds_end": null,
"cds_length": 786,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897261.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.707A>G",
"hgvs_p": "p.Lys236Arg",
"transcript": "ENST00000956442.1",
"protein_id": "ENSP00000626501.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 258,
"cds_start": 707,
"cds_end": null,
"cds_length": 777,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956442.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.677A>G",
"hgvs_p": "p.Lys226Arg",
"transcript": "NM_001159694.2",
"protein_id": "NP_001153166.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 248,
"cds_start": 677,
"cds_end": null,
"cds_length": 747,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159694.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.677A>G",
"hgvs_p": "p.Lys226Arg",
"transcript": "ENST00000511970.5",
"protein_id": "ENSP00000422432.1",
"transcript_support_level": 2,
"aa_start": 226,
"aa_end": null,
"aa_length": 248,
"cds_start": 677,
"cds_end": null,
"cds_length": 747,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511970.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.677A>G",
"hgvs_p": "p.Lys226Arg",
"transcript": "ENST00000956446.1",
"protein_id": "ENSP00000626505.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 248,
"cds_start": 677,
"cds_end": null,
"cds_length": 747,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956446.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.656A>G",
"hgvs_p": "p.Lys219Arg",
"transcript": "ENST00000897252.1",
"protein_id": "ENSP00000567311.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 241,
"cds_start": 656,
"cds_end": null,
"cds_length": 726,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897252.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.656A>G",
"hgvs_p": "p.Lys219Arg",
"transcript": "ENST00000956449.1",
"protein_id": "ENSP00000626508.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 241,
"cds_start": 656,
"cds_end": null,
"cds_length": 726,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956449.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.644A>G",
"hgvs_p": "p.Lys215Arg",
"transcript": "ENST00000897257.1",
"protein_id": "ENSP00000567316.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 237,
"cds_start": 644,
"cds_end": null,
"cds_length": 714,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897257.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.623A>G",
"hgvs_p": "p.Lys208Arg",
"transcript": "ENST00000897259.1",
"protein_id": "ENSP00000567318.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 230,
"cds_start": 623,
"cds_end": null,
"cds_length": 693,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897259.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.593A>G",
"hgvs_p": "p.Lys198Arg",
"transcript": "ENST00000897255.1",
"protein_id": "ENSP00000567314.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 220,
"cds_start": 593,
"cds_end": null,
"cds_length": 663,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897255.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.593A>G",
"hgvs_p": "p.Lys198Arg",
"transcript": "ENST00000956447.1",
"protein_id": "ENSP00000626506.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 220,
"cds_start": 593,
"cds_end": null,
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"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956447.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.593A>G",
"hgvs_p": "p.Lys198Arg",
"transcript": "ENST00000956448.1",
"protein_id": "ENSP00000626507.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 220,
"cds_start": 593,
"cds_end": null,
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"cdna_start": 638,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956448.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.560A>G",
"hgvs_p": "p.Lys187Arg",
"transcript": "ENST00000897249.1",
"protein_id": "ENSP00000567308.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 209,
"cds_start": 560,
"cds_end": null,
"cds_length": 630,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897249.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.524A>G",
"hgvs_p": "p.Lys175Arg",
"transcript": "ENST00000897256.1",
"protein_id": "ENSP00000567315.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 197,
"cds_start": 524,
"cds_end": null,
"cds_length": 594,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.424,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016242.4",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}