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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: 7-36878034-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=36878034&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 36878034,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014800.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "NM_014800.11",
"protein_id": "NP_055615.8",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": "ENST00000310758.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "ENST00000310758.9",
"protein_id": "ENSP00000312185.4",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": "NM_014800.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "ENST00000448602.5",
"protein_id": "ENSP00000394458.1",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Pro120Ser",
"transcript": "ENST00000396040.6",
"protein_id": "ENSP00000379355.2",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 247,
"cds_start": 358,
"cds_end": null,
"cds_length": 744,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Pro120Ser",
"transcript": "ENST00000396045.7",
"protein_id": "ENSP00000379360.3",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 247,
"cds_start": 358,
"cds_end": null,
"cds_length": 744,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "NM_001206480.2",
"protein_id": "NP_001193409.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2338,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "NM_001206482.2",
"protein_id": "NP_001193411.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2480,
"cdna_end": null,
"cdna_length": 5511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "ENST00000442504.5",
"protein_id": "ENSP00000406952.1",
"transcript_support_level": 2,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Pro120Ser",
"transcript": "NM_001039459.3",
"protein_id": "NP_001034548.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 247,
"cds_start": 358,
"cds_end": null,
"cds_length": 744,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Pro120Ser",
"transcript": "NM_130442.4",
"protein_id": "NP_569709.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 247,
"cds_start": 358,
"cds_end": null,
"cds_length": 744,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "XM_005249919.4",
"protein_id": "XP_005249976.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "XM_006715805.2",
"protein_id": "XP_006715868.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 4940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "XM_011515654.3",
"protein_id": "XP_011513956.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 3304,
"cdna_end": null,
"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "XM_017012839.2",
"protein_id": "XP_016868328.1",
"transcript_support_level": null,
"aa_start": 600,
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"cdna_start": 1936,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "XM_024447008.2",
"protein_id": "XP_024302776.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 3199,
"cdna_end": null,
"cdna_length": 6230,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "XM_047421086.1",
"protein_id": "XP_047277042.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
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"cds_start": 1798,
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"cdna_start": 3027,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "XM_047421087.1",
"protein_id": "XP_047277043.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
"cds_end": null,
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"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 6160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser",
"transcript": "XM_047421088.1",
"protein_id": "XP_047277044.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 727,
"cds_start": 1798,
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"cds_length": 2184,
"cdna_start": 2929,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.1685C>T",
"hgvs_p": "p.Ala562Val",
"transcript": "XM_047421089.1",
"protein_id": "XP_047277045.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 593,
"cds_start": 1685,
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"cdna_start": 1948,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "n.442C>T",
"hgvs_p": null,
"transcript": "ENST00000464262.6",
"protein_id": null,
"transcript_support_level": 4,
"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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"cdna_length": 549,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "n.459C>T",
"hgvs_p": null,
"transcript": "NR_038120.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "n.237-16298C>T",
"hgvs_p": null,
"transcript": "ENST00000487843.1",
"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": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"dbsnp": "rs767179282",
"frequency_reference_population": 0.0000037177624,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342082,
"gnomad_genomes_af": 0.00000656875,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3331969976425171,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": 0.1066,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.711,
"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,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014800.11",
"gene_symbol": "ELMO1",
"hgnc_id": 16286,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Pro600Ser"
}
],
"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
}