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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: 2-80302478-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=80302478&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 80302478,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_178839.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"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": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"transcript": "NM_178839.5",
"protein_id": "NP_849161.2",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 522,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": "ENST00000295057.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"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": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"transcript": "ENST00000295057.4",
"protein_id": "ENSP00000295057.3",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 522,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": "NM_178839.5",
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "n.1342G>C",
"hgvs_p": null,
"transcript": "ENST00000417012.5",
"protein_id": "ENSP00000393562.1",
"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": 3021,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "n.1342G>C",
"hgvs_p": null,
"transcript": "ENST00000433224.1",
"protein_id": "ENSP00000414523.1",
"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": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "NM_001282597.3",
"protein_id": "NP_001269526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": -4,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": "ENST00000402739.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "ENST00000402739.9",
"protein_id": "ENSP00000384638.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": -4,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": "NM_001282597.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "ENST00000496558.5",
"protein_id": "ENSP00000419295.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"transcript": "ENST00000409148.1",
"protein_id": "ENSP00000386646.1",
"transcript_support_level": 4,
"aa_start": 448,
"aa_end": null,
"aa_length": 522,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"transcript": "XM_017003986.3",
"protein_id": "XP_016859475.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 522,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"transcript": "XM_017003987.3",
"protein_id": "XP_016859476.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 522,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"transcript": "XM_047444146.1",
"protein_id": "XP_047300102.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 522,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1159-90733C>G",
"hgvs_p": null,
"transcript": "NM_001282598.2",
"protein_id": "NP_001269527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 939,
"cds_start": -4,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "NM_001399737.1",
"protein_id": "NP_001386666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "NM_004389.4",
"protein_id": "NP_004380.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "ENST00000466387.5",
"protein_id": "ENSP00000418191.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
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"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "NM_001164883.2",
"protein_id": "NP_001158355.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 860,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "ENST00000629316.2",
"protein_id": "ENSP00000486160.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": -4,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
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"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "XM_011532556.3",
"protein_id": "XP_011530858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": -4,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
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"cdna_length": 4075,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "XM_024452714.2",
"protein_id": "XP_024308482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "XM_024452715.2",
"protein_id": "XP_024308483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": -4,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "XM_017003403.3",
"protein_id": "XP_016858892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "XM_047443447.1",
"protein_id": "XP_047299403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null,
"transcript": "XM_017003405.3",
"protein_id": "XP_016858894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LRRTM1",
"gene_hgnc_id": 19408,
"dbsnp": "rs777569370",
"frequency_reference_population": 0.0000065703885,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5754773616790771,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.8334,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.032,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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_178839.5",
"gene_symbol": "LRRTM1",
"hgnc_id": 19408,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001282597.3",
"gene_symbol": "CTNNA2",
"hgnc_id": 2510,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1057-90733C>G",
"hgvs_p": null
}
],
"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
}