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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: 3-15563521-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15563521&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15563521,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012260.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1541C>G",
"hgvs_p": "p.Pro514Arg",
"transcript": "NM_012260.4",
"protein_id": "NP_036392.2",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 578,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321169.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012260.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1541C>G",
"hgvs_p": "p.Pro514Arg",
"transcript": "ENST00000321169.10",
"protein_id": "ENSP00000323811.5",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 578,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012260.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321169.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "n.*1002C>G",
"hgvs_p": null,
"transcript": "ENST00000383779.8",
"protein_id": "ENSP00000373289.4",
"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": "ENST00000383779.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "n.*1002C>G",
"hgvs_p": null,
"transcript": "ENST00000383779.8",
"protein_id": "ENSP00000373289.4",
"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": "ENST00000383779.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1778C>G",
"hgvs_p": "p.Pro593Arg",
"transcript": "ENST00000900336.1",
"protein_id": "ENSP00000570395.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 657,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900336.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1733C>G",
"hgvs_p": "p.Pro578Arg",
"transcript": "ENST00000900333.1",
"protein_id": "ENSP00000570392.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 642,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900333.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1661C>G",
"hgvs_p": "p.Pro554Arg",
"transcript": "ENST00000947235.1",
"protein_id": "ENSP00000617294.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 618,
"cds_start": 1661,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947235.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1541C>G",
"hgvs_p": "p.Pro514Arg",
"transcript": "ENST00000947232.1",
"protein_id": "ENSP00000617291.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 598,
"cds_start": 1541,
"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": "ENST00000947232.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1499C>G",
"hgvs_p": "p.Pro500Arg",
"transcript": "ENST00000900337.1",
"protein_id": "ENSP00000570396.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 564,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900337.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1499C>G",
"hgvs_p": "p.Pro500Arg",
"transcript": "ENST00000936952.1",
"protein_id": "ENSP00000607011.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 564,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936952.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1463C>G",
"hgvs_p": "p.Pro488Arg",
"transcript": "ENST00000900332.1",
"protein_id": "ENSP00000570391.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 552,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900332.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "NM_001284413.2",
"protein_id": "NP_001271342.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 551,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284413.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000456194.6",
"protein_id": "ENSP00000390699.2",
"transcript_support_level": 2,
"aa_start": 487,
"aa_end": null,
"aa_length": 551,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456194.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1457C>G",
"hgvs_p": "p.Pro486Arg",
"transcript": "ENST00000900338.1",
"protein_id": "ENSP00000570397.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 550,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900338.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1439C>G",
"hgvs_p": "p.Pro480Arg",
"transcript": "ENST00000900339.1",
"protein_id": "ENSP00000570398.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 544,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900339.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1427C>G",
"hgvs_p": "p.Pro476Arg",
"transcript": "ENST00000936953.1",
"protein_id": "ENSP00000607012.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 540,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936953.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1427C>G",
"hgvs_p": "p.Pro476Arg",
"transcript": "ENST00000947231.1",
"protein_id": "ENSP00000617290.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 540,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947231.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1421C>G",
"hgvs_p": "p.Pro474Arg",
"transcript": "ENST00000936950.1",
"protein_id": "ENSP00000607009.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 538,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936950.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1415C>G",
"hgvs_p": "p.Pro472Arg",
"transcript": "ENST00000947234.1",
"protein_id": "ENSP00000617293.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 536,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947234.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1382C>G",
"hgvs_p": "p.Pro461Arg",
"transcript": "ENST00000900340.1",
"protein_id": "ENSP00000570399.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 525,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900340.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Pro454Arg",
"transcript": "NM_001284415.2",
"protein_id": "NP_001271344.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 518,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284415.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Pro454Arg",
"transcript": "ENST00000457447.6",
"protein_id": "ENSP00000404883.2",
"transcript_support_level": 2,
"aa_start": 454,
"aa_end": null,
"aa_length": 518,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
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}
],
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}