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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: 19-42401831-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42401831&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42401831,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005357.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.3212G>C",
"hgvs_p": "p.Gly1071Ala",
"transcript": "NM_005357.4",
"protein_id": "NP_005348.2",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3212,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000244289.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005357.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.3212G>C",
"hgvs_p": "p.Gly1071Ala",
"transcript": "ENST00000244289.9",
"protein_id": "ENSP00000244289.3",
"transcript_support_level": 1,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3212,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005357.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244289.9"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.105+4607C>G",
"hgvs_p": null,
"transcript": "ENST00000594624.8",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000594624.8"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.3236G>C",
"hgvs_p": "p.Gly1079Ala",
"transcript": "ENST00000599918.2",
"protein_id": "ENSP00000472218.2",
"transcript_support_level": 5,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3236,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599918.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2984G>C",
"hgvs_p": "p.Gly995Ala",
"transcript": "ENST00000597620.6",
"protein_id": "ENSP00000469545.2",
"transcript_support_level": 3,
"aa_start": 995,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597620.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2462G>C",
"hgvs_p": "p.Gly821Ala",
"transcript": "NM_001416100.1",
"protein_id": "NP_001403029.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 826,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416100.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2447G>C",
"hgvs_p": "p.Gly816Ala",
"transcript": "NM_001416101.1",
"protein_id": "NP_001403030.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 821,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416101.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2342G>C",
"hgvs_p": "p.Gly781Ala",
"transcript": "NM_001416102.1",
"protein_id": "NP_001403031.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 786,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416102.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2309G>C",
"hgvs_p": "p.Gly770Ala",
"transcript": "NM_001416103.1",
"protein_id": "NP_001403032.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 775,
"cds_start": 2309,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416103.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2309G>C",
"hgvs_p": "p.Gly770Ala",
"transcript": "NM_001416104.1",
"protein_id": "NP_001403033.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 775,
"cds_start": 2309,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416104.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2219G>C",
"hgvs_p": "p.Gly740Ala",
"transcript": "NM_001416105.1",
"protein_id": "NP_001403034.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 745,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416105.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2114G>C",
"hgvs_p": "p.Gly705Ala",
"transcript": "NM_001416106.1",
"protein_id": "NP_001403035.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 710,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416106.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.1625G>C",
"hgvs_p": "p.Gly542Ala",
"transcript": "NM_001416107.1",
"protein_id": "NP_001403036.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 547,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416107.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.1571G>C",
"hgvs_p": "p.Gly524Ala",
"transcript": "NM_001416108.1",
"protein_id": "NP_001403037.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 529,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416108.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2984G>C",
"hgvs_p": "p.Gly995Ala",
"transcript": "XM_005258937.4",
"protein_id": "XP_005258994.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258937.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2498G>C",
"hgvs_p": "p.Gly833Ala",
"transcript": "XM_005258939.4",
"protein_id": "XP_005258996.2",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 838,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258939.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2309G>C",
"hgvs_p": "p.Gly770Ala",
"transcript": "XM_006723218.4",
"protein_id": "XP_006723281.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 775,
"cds_start": 2309,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723218.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2309G>C",
"hgvs_p": "p.Gly770Ala",
"transcript": "XM_047438835.1",
"protein_id": "XP_047294791.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 775,
"cds_start": 2309,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438835.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2270G>C",
"hgvs_p": "p.Gly757Ala",
"transcript": "XM_047438836.1",
"protein_id": "XP_047294792.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 762,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438836.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.115C>G",
"hgvs_p": null,
"transcript": "ENST00000750195.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000750195.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.78C>G",
"hgvs_p": null,
"transcript": "ENST00000750196.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000750196.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.130+4607C>G",
"hgvs_p": null,
"transcript": "ENST00000593491.4",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000593491.4"
},
{
"aa_ref": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005357.4",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Gly1071Ala"
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{
"score": -2,
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000750195.1",
"gene_symbol": "LIPE-AS1",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
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},
{
"score": -2,
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"BP4_Strong"
],
"verdict": "Likely_benign",
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"effects": [
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],
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}
],
"clinvar_disease": "LIPE-related familial partial lipodystrophy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "LIPE-related familial partial lipodystrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}