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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: 19-42527096-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42527096&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42527096,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000161559.11",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "NM_001712.5",
"protein_id": "NP_001703.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 526,
"cds_start": 369,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": "ENST00000161559.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "ENST00000161559.11",
"protein_id": "ENSP00000161559.6",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 526,
"cds_start": 369,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": "NM_001712.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "ENST00000403444.7",
"protein_id": "ENSP00000384709.3",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 464,
"cds_start": 369,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "ENST00000358394.7",
"protein_id": "ENSP00000351165.2",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 461,
"cds_start": 369,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "ENST00000352591.9",
"protein_id": "ENSP00000244291.6",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 430,
"cds_start": 369,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "ENST00000403461.5",
"protein_id": "ENSP00000384083.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 368,
"cds_start": 369,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "n.444A>C",
"hgvs_p": null,
"transcript": "ENST00000344391.9",
"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": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "n.464A>C",
"hgvs_p": null,
"transcript": "ENST00000377806.7",
"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": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "n.464A>C",
"hgvs_p": null,
"transcript": "ENST00000403136.1",
"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": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.233+41873T>G",
"hgvs_p": null,
"transcript": "ENST00000594624.8",
"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": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "NM_001205344.2",
"protein_id": "NP_001192273.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 468,
"cds_start": 369,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "NM_001024912.3",
"protein_id": "NP_001020083.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 464,
"cds_start": 369,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "NM_001184815.2",
"protein_id": "NP_001171744.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 461,
"cds_start": 369,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "NM_001184813.2",
"protein_id": "NP_001171742.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 430,
"cds_start": 369,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "ENST00000599389.1",
"protein_id": "ENSP00000471918.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 399,
"cds_start": 369,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "NM_001184816.2",
"protein_id": "NP_001171745.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 368,
"cds_start": 369,
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"cdna_start": 476,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Gln83His",
"transcript": "ENST00000600172.1",
"protein_id": "ENSP00000471566.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 98,
"cds_start": 249,
"cds_end": null,
"cds_length": 297,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Gln83His",
"transcript": "ENST00000471298.2",
"protein_id": "ENSP00000472633.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 93,
"cds_start": 249,
"cds_end": null,
"cds_length": 283,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.369A>C",
"hgvs_p": "p.Gln123His",
"transcript": "XM_011527206.3",
"protein_id": "XP_011525508.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 351,
"cds_start": 369,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 476,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.1450+101892T>G",
"hgvs_p": null,
"transcript": "ENST00000594688.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.260+41873T>G",
"hgvs_p": null,
"transcript": "ENST00000661814.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.249+41873T>G",
"hgvs_p": null,
"transcript": "ENST00000685574.3",
"protein_id": null,
"transcript_support_level": null,
"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": 983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.234+41873T>G",
"hgvs_p": null,
"transcript": "ENST00000689053.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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}