← Back to variant description
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: 5-180616439-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180616439&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180616439,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_182925.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3147C>T",
"hgvs_p": "p.Asp1049Asp",
"transcript": "NM_182925.5",
"protein_id": "NP_891555.2",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1363,
"cds_start": 3147,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261937.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182925.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3147C>T",
"hgvs_p": "p.Asp1049Asp",
"transcript": "ENST00000261937.11",
"protein_id": "ENSP00000261937.6",
"transcript_support_level": 1,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1363,
"cds_start": 3147,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182925.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261937.11"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3147C>T",
"hgvs_p": "p.Asp1049Asp",
"transcript": "ENST00000502649.5",
"protein_id": "ENSP00000426057.1",
"transcript_support_level": 1,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3147,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502649.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3147C>T",
"hgvs_p": "p.Asp1049Asp",
"transcript": "ENST00000393347.7",
"protein_id": "ENSP00000377016.3",
"transcript_support_level": 1,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3147,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393347.7"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3147C>T",
"hgvs_p": "p.Asp1049Asp",
"transcript": "ENST00000955857.1",
"protein_id": "ENSP00000625916.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3147,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955857.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3213C>T",
"hgvs_p": "p.Asp1071Asp",
"transcript": "ENST00000861588.1",
"protein_id": "ENSP00000531647.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3213,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861588.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3201C>T",
"hgvs_p": "p.Asp1067Asp",
"transcript": "ENST00000955858.1",
"protein_id": "ENSP00000625917.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3201,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955858.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3165C>T",
"hgvs_p": "p.Asp1055Asp",
"transcript": "ENST00000937381.1",
"protein_id": "ENSP00000607440.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3165,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937381.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3147C>T",
"hgvs_p": "p.Asp1049Asp",
"transcript": "NM_001354989.2",
"protein_id": "NP_001341918.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3147,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354989.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3147C>T",
"hgvs_p": "p.Asp1049Asp",
"transcript": "NM_002020.5",
"protein_id": "NP_002011.2",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3147,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002020.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "ENST00000512795.1",
"protein_id": "ENSP00000421535.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 141,
"cds_start": 261,
"cds_end": null,
"cds_length": 427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512795.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3378C>T",
"hgvs_p": "p.Asp1126Asp",
"transcript": "XM_011534478.4",
"protein_id": "XP_011532780.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3378,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534478.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3378C>T",
"hgvs_p": "p.Asp1126Asp",
"transcript": "XM_017009263.2",
"protein_id": "XP_016864752.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3378,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009263.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3378C>T",
"hgvs_p": "p.Asp1126Asp",
"transcript": "XM_017009266.2",
"protein_id": "XP_016864755.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1375,
"cds_start": 3378,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009266.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3069C>T",
"hgvs_p": "p.Asp1023Asp",
"transcript": "XM_017009268.2",
"protein_id": "XP_016864757.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3069,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009268.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3243C>T",
"hgvs_p": "p.Asp1081Asp",
"transcript": "XM_047417002.1",
"protein_id": "XP_047272958.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3243,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417002.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3378C>T",
"hgvs_p": "p.Asp1126Asp",
"transcript": "XM_047417003.1",
"protein_id": "XP_047272959.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3378,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417003.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.2688C>T",
"hgvs_p": "p.Asp896Asp",
"transcript": "XM_011534484.3",
"protein_id": "XP_011532786.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2688,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534484.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.*2090C>T",
"hgvs_p": null,
"transcript": "ENST00000619105.4",
"protein_id": "ENSP00000481134.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": null,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619105.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "n.2540C>T",
"hgvs_p": null,
"transcript": "ENST00000507059.5",
"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": "retained_intron",
"feature": "ENST00000507059.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "n.514C>T",
"hgvs_p": null,
"transcript": "ENST00000514810.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000514810.1"
}
],
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"dbsnp": "rs56127961",
"frequency_reference_population": 0.002509985,
"hom_count_reference_population": 107,
"allele_count_reference_population": 4051,
"gnomad_exomes_af": 0.00135738,
"gnomad_genomes_af": 0.0135708,
"gnomad_exomes_ac": 1984,
"gnomad_genomes_ac": 2067,
"gnomad_exomes_homalt": 59,
"gnomad_genomes_homalt": 48,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.053,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_182925.5",
"gene_symbol": "FLT4",
"hgnc_id": 3767,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3147C>T",
"hgvs_p": "p.Asp1049Asp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}