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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: 3-138500198-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138500198&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 138500198,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320599.2",
"consequences": [
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "NM_024491.4",
"protein_id": "NP_077817.2",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264982.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024491.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000264982.8",
"protein_id": "ENSP00000264982.3",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024491.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264982.8"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000481834.5",
"protein_id": "ENSP00000417465.1",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 554,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481834.5"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Ile",
"transcript": "ENST00000882531.1",
"protein_id": "ENSP00000552590.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 617,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882531.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "NM_001320599.2",
"protein_id": "NP_001307528.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 598,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320599.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "NM_001320598.2",
"protein_id": "NP_001307527.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320598.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000484888.5",
"protein_id": "ENSP00000419231.1",
"transcript_support_level": 5,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484888.5"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000882532.1",
"protein_id": "ENSP00000552591.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882532.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000882534.1",
"protein_id": "ENSP00000552593.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882534.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000882535.1",
"protein_id": "ENSP00000552594.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882535.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000923052.1",
"protein_id": "ENSP00000593111.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923052.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000923053.1",
"protein_id": "ENSP00000593112.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923053.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000968169.1",
"protein_id": "ENSP00000638228.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968169.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000968170.1",
"protein_id": "ENSP00000638229.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 597,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968170.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1561G>A",
"hgvs_p": "p.Val521Ile",
"transcript": "ENST00000923048.1",
"protein_id": "ENSP00000593107.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 596,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923048.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1561G>A",
"hgvs_p": "p.Val521Ile",
"transcript": "ENST00000923049.1",
"protein_id": "ENSP00000593108.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 596,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923049.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Val504Ile",
"transcript": "NM_001288964.2",
"protein_id": "NP_001275893.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 579,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288964.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Val504Ile",
"transcript": "ENST00000474781.5",
"protein_id": "ENSP00000419833.1",
"transcript_support_level": 2,
"aa_start": 504,
"aa_end": null,
"aa_length": 579,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474781.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"transcript": "ENST00000923054.1",
"protein_id": "ENSP00000593113.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 578,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923054.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Val502Ile",
"transcript": "NM_001288965.2",
"protein_id": "NP_001275894.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 577,
"cds_start": 1504,
"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": "NM_001288965.2"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "NM_001288966.2",
"protein_id": "NP_001275895.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 554,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288966.2"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1417G>A",
"hgvs_p": "p.Val473Ile",
"transcript": "ENST00000882528.1",
"protein_id": "ENSP00000552587.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 548,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1647,
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"cds_start": 787,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.-18G>A",
"hgvs_p": null,
"transcript": "ENST00000459695.1",
"protein_id": "ENSP00000418552.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": null,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000459695.1"
}
],
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"dbsnp": "rs1176677619",
"frequency_reference_population": 0.0000020546172,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205462,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6131327152252197,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.22,
"revel_prediction": "Benign",
"alphamissense_score": 0.1961,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.656,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320599.2",
"gene_symbol": "CEP70",
"hgnc_id": 29972,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile"
}
],
"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
}