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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: 14-30630553-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30630553&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30630553,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016106.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "NM_016106.4",
"protein_id": "NP_057190.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 642,
"cds_start": 209,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000458591.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016106.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000458591.7",
"protein_id": "ENSP00000390783.2",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 642,
"cds_start": 209,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016106.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458591.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "n.209T>C",
"hgvs_p": null,
"transcript": "ENST00000555259.5",
"protein_id": "ENSP00000452323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555259.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "n.209T>C",
"hgvs_p": null,
"transcript": "ENST00000556768.5",
"protein_id": "ENSP00000451811.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556768.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000865391.1",
"protein_id": "ENSP00000535450.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 704,
"cds_start": 209,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865391.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000971240.1",
"protein_id": "ENSP00000641299.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 681,
"cds_start": 209,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971240.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000865392.1",
"protein_id": "ENSP00000535451.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 653,
"cds_start": 209,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865392.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000913286.1",
"protein_id": "ENSP00000583345.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 649,
"cds_start": 209,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913286.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000676509.1",
"protein_id": "ENSP00000504739.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 641,
"cds_start": 209,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676509.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000676658.1",
"protein_id": "ENSP00000503347.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 620,
"cds_start": 209,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676658.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.134T>C",
"hgvs_p": "p.Ile45Thr",
"transcript": "ENST00000677340.1",
"protein_id": "ENSP00000504124.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 616,
"cds_start": 134,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677340.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000676812.1",
"protein_id": "ENSP00000504504.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 612,
"cds_start": 209,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676812.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000678402.1",
"protein_id": "ENSP00000503444.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 601,
"cds_start": 209,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678402.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000678669.1",
"protein_id": "ENSP00000504126.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 592,
"cds_start": 209,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678669.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000679165.1",
"protein_id": "ENSP00000503787.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 591,
"cds_start": 209,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679165.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Ile3Thr",
"transcript": "NM_182835.2",
"protein_id": "NP_878255.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 575,
"cds_start": 8,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182835.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Ile3Thr",
"transcript": "ENST00000544052.6",
"protein_id": "ENSP00000443010.2",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 575,
"cds_start": 8,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544052.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Ile3Thr",
"transcript": "ENST00000678124.1",
"protein_id": "ENSP00000503029.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 575,
"cds_start": 8,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678124.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000557076.6",
"protein_id": "ENSP00000450755.2",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 513,
"cds_start": 209,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557076.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Ile3Thr",
"transcript": "ENST00000553693.6",
"protein_id": "ENSP00000452308.2",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 410,
"cds_start": 8,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553693.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Ile3Thr",
"transcript": "ENST00000676954.1",
"protein_id": "ENSP00000504250.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 291,
"cds_start": 8,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676954.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr",
"transcript": "ENST00000469043.2",
"protein_id": "ENSP00000452448.2",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 289,
"cds_start": 209,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
"gene_symbol": "SCFD1",
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"allele_count_reference_population": 5077,
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"computational_score_selected": 0.020704448223114014,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.858,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9795,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.563,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -8,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -8,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016106.4",
"gene_symbol": "SCFD1",
"hgnc_id": 20726,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Ile70Thr"
},
{
"score": -8,
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"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000781163.1",
"gene_symbol": "ENSG00000301732",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.285-14159A>G",
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}
],
"clinvar_disease": "Amyotrophic lateral sclerosis,SCFD1-related disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Amyotrophic lateral sclerosis|SCFD1-related disorder|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}