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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: 4-1978885-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1978885&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1978885,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000508803.6",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>A",
"hgvs_p": "p.Trp1358*",
"transcript": "NM_001042424.3",
"protein_id": "NP_001035889.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": "ENST00000508803.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>A",
"hgvs_p": "p.Trp1358*",
"transcript": "ENST00000508803.6",
"protein_id": "ENSP00000423972.1",
"transcript_support_level": 1,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": "NM_001042424.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>A",
"hgvs_p": "p.Trp1358*",
"transcript": "ENST00000382892.6",
"protein_id": "ENSP00000372348.2",
"transcript_support_level": 1,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4388,
"cdna_end": null,
"cdna_length": 7706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>A",
"hgvs_p": "p.Trp1358*",
"transcript": "ENST00000382895.7",
"protein_id": "ENSP00000372351.3",
"transcript_support_level": 1,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4505,
"cdna_end": null,
"cdna_length": 7827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.2118G>A",
"hgvs_p": "p.Trp706*",
"transcript": "ENST00000382888.3",
"protein_id": "ENSP00000372344.3",
"transcript_support_level": 1,
"aa_start": 706,
"aa_end": null,
"aa_length": 713,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2636,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.*2357G>A",
"hgvs_p": null,
"transcript": "ENST00000312087.10",
"protein_id": "ENSP00000308780.6",
"transcript_support_level": 1,
"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": 8050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.*2224G>A",
"hgvs_p": null,
"transcript": "ENST00000353275.9",
"protein_id": "ENSP00000329167.5",
"transcript_support_level": 1,
"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": 7980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.2691G>A",
"hgvs_p": null,
"transcript": "ENST00000482415.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.*2357G>A",
"hgvs_p": null,
"transcript": "ENST00000312087.10",
"protein_id": "ENSP00000308780.6",
"transcript_support_level": 1,
"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": 8050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.*2224G>A",
"hgvs_p": null,
"transcript": "ENST00000353275.9",
"protein_id": "ENSP00000329167.5",
"transcript_support_level": 1,
"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": 7980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4173G>A",
"hgvs_p": "p.Trp1391*",
"transcript": "NM_001440893.1",
"protein_id": "NP_001427822.1",
"transcript_support_level": null,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1398,
"cds_start": 4173,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 4352,
"cdna_end": null,
"cdna_length": 7659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>A",
"hgvs_p": "p.Trp1358*",
"transcript": "NM_001440892.1",
"protein_id": "NP_001427821.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4351,
"cdna_end": null,
"cdna_length": 7658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>A",
"hgvs_p": "p.Trp1358*",
"transcript": "NM_133330.3",
"protein_id": "NP_579877.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4568,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>A",
"hgvs_p": "p.Trp1358*",
"transcript": "NM_133331.3",
"protein_id": "NP_579878.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4388,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>A",
"hgvs_p": "p.Trp1358*",
"transcript": "NM_133335.4",
"protein_id": "NP_579890.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4213,
"cdna_end": null,
"cdna_length": 7520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>A",
"hgvs_p": "p.Trp1358*",
"transcript": "ENST00000382891.9",
"protein_id": "ENSP00000372347.5",
"transcript_support_level": 5,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4213,
"cdna_end": null,
"cdna_length": 7534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3957G>A",
"hgvs_p": "p.Trp1319*",
"transcript": "NM_001440894.1",
"protein_id": "NP_001427823.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1326,
"cds_start": 3957,
"cds_end": null,
"cds_length": 3981,
"cdna_start": 4136,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3927G>A",
"hgvs_p": "p.Trp1309*",
"transcript": "NM_001440895.1",
"protein_id": "NP_001427824.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3927,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 4106,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3873G>A",
"hgvs_p": "p.Trp1291*",
"transcript": "NM_001440896.1",
"protein_id": "NP_001427825.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3873,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 4052,
"cdna_end": null,
"cdna_length": 7359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3867G>A",
"hgvs_p": "p.Trp1289*",
"transcript": "NM_001440897.1",
"protein_id": "NP_001427826.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3867,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 7353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3750G>A",
"hgvs_p": "p.Trp1250*",
"transcript": "NM_001440898.1",
"protein_id": "NP_001427827.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3750,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 3929,
"cdna_end": null,
"cdna_length": 7236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3105G>A",
"hgvs_p": "p.Trp1035*",
"transcript": "NM_001440899.1",
"protein_id": "NP_001427828.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1042,
"cds_start": 3105,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 4090,
"cdna_end": null,
"cdna_length": 7397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3105G>A",
"hgvs_p": "p.Trp1035*",
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},
{
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],
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}
],
"gene_symbol": "NSD2",
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"dbsnp": "rs1553881444",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.127,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
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"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000508803.6",
"gene_symbol": "NSD2",
"hgnc_id": 12766,
"effects": [
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],
"inheritance_mode": "AD",
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],
"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
}