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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: 4-1900682-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1900682&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1900682,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001440893.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "NM_001042424.3",
"protein_id": "NP_001035889.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000508803.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042424.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000508803.6",
"protein_id": "ENSP00000423972.1",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042424.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508803.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000382892.6",
"protein_id": "ENSP00000372348.2",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382892.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000382895.7",
"protein_id": "ENSP00000372351.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382895.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000398261.6",
"protein_id": "ENSP00000381311.1",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 647,
"cds_start": 28,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398261.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000503128.5",
"protein_id": "ENSP00000425761.1",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 647,
"cds_start": 28,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503128.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000420906.6",
"protein_id": "ENSP00000399251.2",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 629,
"cds_start": 28,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420906.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000514045.5",
"protein_id": "ENSP00000421681.1",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 629,
"cds_start": 28,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514045.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.28C>G",
"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": 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": "ENST00000312087.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.28C>G",
"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": 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": "ENST00000353275.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.146C>G",
"hgvs_p": null,
"transcript": "ENST00000508355.5",
"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": "retained_intron",
"feature": "ENST00000508355.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "NM_001440893.1",
"protein_id": "NP_001427822.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1398,
"cds_start": 28,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440893.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "NM_001440892.1",
"protein_id": "NP_001427821.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440892.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "NM_133330.3",
"protein_id": "NP_579877.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133330.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "NM_133331.3",
"protein_id": "NP_579878.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133331.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "NM_133335.4",
"protein_id": "NP_579890.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133335.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000382891.9",
"protein_id": "ENSP00000372347.5",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382891.9"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000899091.1",
"protein_id": "ENSP00000569150.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899091.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000899092.1",
"protein_id": "ENSP00000569151.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899092.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000922145.1",
"protein_id": "ENSP00000592204.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922145.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000922150.1",
"protein_id": "ENSP00000592209.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922150.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Leu10Val",
"transcript": "ENST00000922155.1",
"protein_id": "ENSP00000592214.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1365,
"cds_start": 28,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922155.1"
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{
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{
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],
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],
"gene_symbol": "NSD2",
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"dbsnp": "rs1328532362",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137986,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1374165415763855,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.0625,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.813,
"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": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001440893.1",
"gene_symbol": "NSD2",
"hgnc_id": 12766,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}