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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: 7-38394184-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=38394184&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 38394184,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001635.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Val477Ile",
"transcript": "NM_001635.4",
"protein_id": "NP_001626.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 695,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356264.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001635.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Val477Ile",
"transcript": "ENST00000356264.7",
"protein_id": "ENSP00000348602.2",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 695,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001635.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356264.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Val435Ile",
"transcript": "ENST00000325590.9",
"protein_id": "ENSP00000317441.5",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 653,
"cds_start": 1303,
"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": "ENST00000325590.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Val359Ile",
"transcript": "ENST00000441628.5",
"protein_id": "ENSP00000415085.1",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 577,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441628.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "n.657G>A",
"hgvs_p": null,
"transcript": "ENST00000467580.5",
"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": "ENST00000467580.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "n.1569G>A",
"hgvs_p": null,
"transcript": "ENST00000471913.5",
"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": "ENST00000471913.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1951G>A",
"hgvs_p": "p.Val651Ile",
"transcript": "ENST00000962300.1",
"protein_id": "ENSP00000632359.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 869,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962300.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Val601Ile",
"transcript": "ENST00000873036.1",
"protein_id": "ENSP00000543095.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 819,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873036.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Val601Ile",
"transcript": "ENST00000962297.1",
"protein_id": "ENSP00000632356.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 817,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962297.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Val477Ile",
"transcript": "ENST00000873037.1",
"protein_id": "ENSP00000543096.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 693,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873037.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Val435Ile",
"transcript": "NM_139316.3",
"protein_id": "NP_647477.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 653,
"cds_start": 1303,
"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": "NM_139316.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Val427Ile",
"transcript": "ENST00000962298.1",
"protein_id": "ENSP00000632357.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 645,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962298.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "ENST00000873035.1",
"protein_id": "ENSP00000543094.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 634,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873035.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "ENST00000962299.1",
"protein_id": "ENSP00000632358.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 634,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962299.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.3145G>A",
"hgvs_p": "p.Val1049Ile",
"transcript": "XM_017011995.3",
"protein_id": "XP_016867484.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3145,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011995.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.3019G>A",
"hgvs_p": "p.Val1007Ile",
"transcript": "XM_006715689.5",
"protein_id": "XP_006715752.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3019,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715689.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Val703Ile",
"transcript": "XM_017011996.3",
"protein_id": "XP_016867485.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 921,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011996.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Val643Ile",
"transcript": "XM_011515271.4",
"protein_id": "XP_011513573.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 861,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515271.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Val601Ile",
"transcript": "XM_006715690.5",
"protein_id": "XP_006715753.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 819,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715690.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "n.*118G>A",
"hgvs_p": null,
"transcript": "ENST00000450124.1",
"protein_id": "ENSP00000400404.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000450124.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "n.461G>A",
"hgvs_p": null,
"transcript": "ENST00000462072.1",
"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": "ENST00000462072.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "n.238G>A",
"hgvs_p": null,
"transcript": "ENST00000475581.5",
"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": "ENST00000475581.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"hgvs_c": "n.*118G>A",
"hgvs_p": null,
"transcript": "ENST00000450124.1",
"protein_id": "ENSP00000400404.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000450124.1"
}
],
"gene_symbol": "AMPH",
"gene_hgnc_id": 471,
"dbsnp": "rs369724143",
"frequency_reference_population": 0.0000012390652,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84051e-7,
"gnomad_genomes_af": 0.00000656858,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06823384761810303,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.0795,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.491,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001635.4",
"gene_symbol": "AMPH",
"hgnc_id": 471,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Val477Ile"
}
],
"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
}