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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: 2-219157604-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219157604&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219157604,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001377499.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "NM_024782.3",
"protein_id": "NP_079058.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 299,
"cds_start": 258,
"cds_end": null,
"cds_length": 900,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 8020,
"mane_select": "ENST00000356853.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024782.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000356853.10",
"protein_id": "ENSP00000349313.5",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 299,
"cds_start": 258,
"cds_end": null,
"cds_length": 900,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 8020,
"mane_select": "NM_024782.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356853.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000280537",
"gene_hgnc_id": null,
"hgvs_c": "n.*1380C>G",
"hgvs_p": null,
"transcript": "ENST00000318673.6",
"protein_id": "ENSP00000320919.3",
"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": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000318673.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000280537",
"gene_hgnc_id": null,
"hgvs_c": "n.*1380C>G",
"hgvs_p": null,
"transcript": "ENST00000318673.6",
"protein_id": "ENSP00000320919.3",
"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": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000318673.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000881108.1",
"protein_id": "ENSP00000551167.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 321,
"cds_start": 258,
"cds_end": null,
"cds_length": 966,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881108.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000409720.5",
"protein_id": "ENSP00000387290.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 316,
"cds_start": 258,
"cds_end": null,
"cds_length": 951,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409720.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "NM_001377499.1",
"protein_id": "NP_001364428.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 304,
"cds_start": 258,
"cds_end": null,
"cds_length": 915,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 8035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377499.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000426304.6",
"protein_id": "ENSP00000394896.2",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 304,
"cds_start": 258,
"cds_end": null,
"cds_length": 915,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426304.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000929435.1",
"protein_id": "ENSP00000599494.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 304,
"cds_start": 258,
"cds_end": null,
"cds_length": 915,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929435.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000929436.1",
"protein_id": "ENSP00000599495.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 304,
"cds_start": 258,
"cds_end": null,
"cds_length": 915,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929436.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "NM_001377498.1",
"protein_id": "NP_001364427.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 299,
"cds_start": 258,
"cds_end": null,
"cds_length": 900,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 7970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377498.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000457600.3",
"protein_id": "ENSP00000407201.2",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 299,
"cds_start": 258,
"cds_end": null,
"cds_length": 900,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457600.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000881109.1",
"protein_id": "ENSP00000551168.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 299,
"cds_start": 258,
"cds_end": null,
"cds_length": 900,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881109.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000929432.1",
"protein_id": "ENSP00000599491.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 299,
"cds_start": 258,
"cds_end": null,
"cds_length": 900,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929432.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000929437.1",
"protein_id": "ENSP00000599496.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 299,
"cds_start": 258,
"cds_end": null,
"cds_length": 900,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929437.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000929438.1",
"protein_id": "ENSP00000599497.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 299,
"cds_start": 258,
"cds_end": null,
"cds_length": 900,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929438.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.255C>G",
"hgvs_p": "p.Asp85Glu",
"transcript": "ENST00000929433.1",
"protein_id": "ENSP00000599492.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 298,
"cds_start": 255,
"cds_end": null,
"cds_length": 897,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929433.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000929434.1",
"protein_id": "ENSP00000599493.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 298,
"cds_start": 258,
"cds_end": null,
"cds_length": 897,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929434.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "c.177+582C>G",
"hgvs_p": null,
"transcript": "ENST00000941811.1",
"protein_id": "ENSP00000611870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941811.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "n.258C>G",
"hgvs_p": null,
"transcript": "ENST00000418099.5",
"protein_id": "ENSP00000408966.1",
"transcript_support_level": 5,
"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": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418099.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000280537",
"gene_hgnc_id": null,
"hgvs_c": "n.2446C>G",
"hgvs_p": null,
"transcript": "ENST00000498327.5",
"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": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000498327.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHEJ1",
"gene_hgnc_id": 25737,
"hgvs_c": "n.258C>G",
"hgvs_p": null,
"transcript": "ENST00000698174.1",
"protein_id": "ENSP00000513594.1",
"transcript_support_level": null,
"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": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698174.1"
},
{
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{
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{
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}