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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: 5-180616464-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180616464&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FLT4",
"hgnc_id": 3767,
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041Gln",
"inheritance_mode": "AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_182925.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9831,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.38,
"chr": "5",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Hereditary lymphedema type I,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9898026585578918,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1363,
"aa_ref": "R",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5833,
"cdna_start": 3177,
"cds_end": null,
"cds_length": 4092,
"cds_start": 3122,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_182925.5",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261937.11",
"protein_coding": true,
"protein_id": "NP_891555.2",
"strand": false,
"transcript": "NM_182925.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1363,
"aa_ref": "R",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5833,
"cdna_start": 3177,
"cds_end": null,
"cds_length": 4092,
"cds_start": 3122,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000261937.11",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182925.5",
"protein_coding": true,
"protein_id": "ENSP00000261937.6",
"strand": false,
"transcript": "ENST00000261937.11",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "R",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 3177,
"cds_end": null,
"cds_length": 3921,
"cds_start": 3122,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000502649.5",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426057.1",
"strand": false,
"transcript": "ENST00000502649.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "R",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 3201,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3122,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000393347.7",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377016.3",
"strand": false,
"transcript": "ENST00000393347.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "R",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6136,
"cdna_start": 3205,
"cds_end": null,
"cds_length": 4368,
"cds_start": 3122,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000955857.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625916.1",
"strand": false,
"transcript": "ENST00000955857.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1385,
"aa_ref": "R",
"aa_start": 1063,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5925,
"cdna_start": 3272,
"cds_end": null,
"cds_length": 4158,
"cds_start": 3188,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000861588.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3188G>A",
"hgvs_p": "p.Arg1063Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531647.1",
"strand": false,
"transcript": "ENST00000861588.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "R",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5531,
"cdna_start": 3224,
"cds_end": null,
"cds_length": 4146,
"cds_start": 3176,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000955858.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3176G>A",
"hgvs_p": "p.Arg1059Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625917.1",
"strand": false,
"transcript": "ENST00000955858.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "R",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5874,
"cdna_start": 3223,
"cds_end": null,
"cds_length": 4110,
"cds_start": 3140,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000937381.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3140G>A",
"hgvs_p": "p.Arg1047Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607440.1",
"strand": false,
"transcript": "ENST00000937381.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "R",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 3177,
"cds_end": null,
"cds_length": 3921,
"cds_start": 3122,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001354989.2",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341918.1",
"strand": false,
"transcript": "NM_001354989.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "R",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4484,
"cdna_start": 3177,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3122,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_002020.5",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002011.2",
"strand": false,
"transcript": "NM_002020.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 141,
"aa_ref": "R",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 580,
"cdna_start": 389,
"cds_end": null,
"cds_length": 427,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000512795.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.236G>A",
"hgvs_p": "p.Arg79Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421535.1",
"strand": false,
"transcript": "ENST00000512795.1",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6244,
"cdna_start": 3588,
"cds_end": null,
"cds_length": 4323,
"cds_start": 3353,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011534478.4",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3353G>A",
"hgvs_p": "p.Arg1118Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532780.1",
"strand": false,
"transcript": "XM_011534478.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6706,
"cdna_start": 3977,
"cds_end": null,
"cds_length": 4158,
"cds_start": 3353,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017009263.2",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3353G>A",
"hgvs_p": "p.Arg1118Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864752.1",
"strand": false,
"transcript": "XM_017009263.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1375,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4896,
"cdna_start": 3589,
"cds_end": null,
"cds_length": 4128,
"cds_start": 3353,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017009266.2",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3353G>A",
"hgvs_p": "p.Arg1118Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864755.1",
"strand": false,
"transcript": "XM_017009266.2",
"transcript_support_level": null
},
{
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"aa_length": 1337,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5800,
"cdna_start": 3144,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3044,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017009268.2",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3044G>A",
"hgvs_p": "p.Arg1015Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864757.1",
"strand": false,
"transcript": "XM_017009268.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "R",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 3273,
"cds_end": null,
"cds_length": 3993,
"cds_start": 3218,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047417002.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3218G>A",
"hgvs_p": "p.Arg1073Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272958.1",
"strand": false,
"transcript": "XM_047417002.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1297,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 4287,
"cdna_start": 3595,
"cds_end": null,
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"cds_start": 3353,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047417003.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.3353G>A",
"hgvs_p": "p.Arg1118Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272959.1",
"strand": false,
"transcript": "XM_047417003.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2759,
"cds_end": null,
"cds_length": 3633,
"cds_start": 2663,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011534484.3",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.2663G>A",
"hgvs_p": "p.Arg888Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532786.1",
"strand": false,
"transcript": "XM_011534484.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": null,
"cds_end": null,
"cds_length": 888,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000619105.4",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.*2065G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481134.1",
"strand": false,
"transcript": "ENST00000619105.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000507059.5",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "n.2515G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000507059.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 690,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
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}