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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: 19-41579520-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41579520&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41579520,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001098506.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met",
"transcript": "NM_001098506.4",
"protein_id": "NP_001091976.3",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 293,
"cds_start": 592,
"cds_end": null,
"cds_length": 882,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": "ENST00000401445.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098506.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met",
"transcript": "ENST00000401445.4",
"protein_id": "ENSP00000385739.2",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 293,
"cds_start": 592,
"cds_end": null,
"cds_length": 882,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": "NM_001098506.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401445.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met",
"transcript": "ENST00000187608.13",
"protein_id": "ENSP00000187608.9",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 292,
"cds_start": 592,
"cds_end": null,
"cds_length": 879,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000187608.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "n.*99G>A",
"hgvs_p": null,
"transcript": "ENST00000457737.5",
"protein_id": "ENSP00000390697.1",
"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": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457737.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "n.*99G>A",
"hgvs_p": null,
"transcript": "ENST00000457737.5",
"protein_id": "ENSP00000390697.1",
"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": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457737.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met",
"transcript": "ENST00000890424.1",
"protein_id": "ENSP00000560483.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 293,
"cds_start": 592,
"cds_end": null,
"cds_length": 882,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890424.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met",
"transcript": "ENST00000967641.1",
"protein_id": "ENSP00000637700.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 293,
"cds_start": 592,
"cds_end": null,
"cds_length": 882,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967641.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met",
"transcript": "NM_033543.6",
"protein_id": "NP_291021.4",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 292,
"cds_start": 592,
"cds_end": null,
"cds_length": 879,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033543.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "NM_001288773.3",
"protein_id": "NP_001275702.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 165,
"cds_start": 208,
"cds_end": null,
"cds_length": 498,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288773.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000407170.6",
"protein_id": "ENSP00000384380.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 165,
"cds_start": 208,
"cds_end": null,
"cds_length": 498,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407170.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "NM_001290113.2",
"protein_id": "NP_001277042.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 164,
"cds_start": 208,
"cds_end": null,
"cds_length": 495,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290113.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "XM_017027430.2",
"protein_id": "XP_016882919.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 302,
"cds_start": 619,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027430.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "XM_017027431.2",
"protein_id": "XP_016882920.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 302,
"cds_start": 619,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027431.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "XM_017027432.3",
"protein_id": "XP_016882921.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 301,
"cds_start": 619,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027432.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "XM_047439608.1",
"protein_id": "XP_047295564.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 301,
"cds_start": 619,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439608.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met",
"transcript": "XM_005278397.5",
"protein_id": "XP_005278454.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 292,
"cds_start": 592,
"cds_end": null,
"cds_length": 879,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005278397.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "XM_047439611.1",
"protein_id": "XP_047295567.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 165,
"cds_start": 208,
"cds_end": null,
"cds_length": 498,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439611.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "XM_047439612.1",
"protein_id": "XP_047295568.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 164,
"cds_start": 208,
"cds_end": null,
"cds_length": 495,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439612.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.*99G>A",
"hgvs_p": null,
"transcript": "XM_047439609.1",
"protein_id": "XP_047295565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439609.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.*99G>A",
"hgvs_p": null,
"transcript": "XM_047439610.1",
"protein_id": "XP_047295566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "c.424+1961G>A",
"hgvs_p": null,
"transcript": "ENST00000890425.1",
"protein_id": "ENSP00000560484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890425.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM21",
"gene_hgnc_id": 28834,
"hgvs_c": "n.903G>A",
"hgvs_p": null,
"transcript": "ENST00000482870.6",
"protein_id": null,
"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": 1534,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
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{
"aa_ref": null,
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"canonical": false,
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"strand": true,
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"upstream_gene_variant"
],
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"gene_symbol": "CEACAM21",
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"protein_id": "ENSP00000488260.1",
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"biotype": "protein_coding",
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}
],
"gene_symbol": "CEACAM21",
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"dbsnp": "rs2302188",
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"hom_count_reference_population": 65864,
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"gnomad_exomes_af": 0.266186,
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"gnomad_exomes_ac": 388848,
"gnomad_genomes_ac": 53536,
"gnomad_exomes_homalt": 54828,
"gnomad_genomes_homalt": 11036,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004874497652053833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1681,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.27,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001098506.4",
"gene_symbol": "CEACAM21",
"hgnc_id": 28834,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}