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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: 19-55132950-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55132950&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55132950,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003283.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Ala268Ser",
"transcript": "NM_003283.6",
"protein_id": "NP_003274.3",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 278,
"cds_start": 802,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000588981.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003283.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Ala268Ser",
"transcript": "ENST00000588981.6",
"protein_id": "ENSP00000467176.1",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 278,
"cds_start": 802,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003283.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588981.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.754G>T",
"hgvs_p": "p.Ala252Ser",
"transcript": "ENST00000291901.12",
"protein_id": "ENSP00000291901.8",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 262,
"cds_start": 754,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291901.12"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000356783.9",
"protein_id": "ENSP00000349233.4",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 251,
"cds_start": 721,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356783.9"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "ENST00000587758.5",
"protein_id": "ENSP00000467789.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 251,
"cds_start": 721,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587758.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.967G>T",
"hgvs_p": "p.Ala323Ser",
"transcript": "ENST00000964355.1",
"protein_id": "ENSP00000634414.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 333,
"cds_start": 967,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964355.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000964357.1",
"protein_id": "ENSP00000634416.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 322,
"cds_start": 934,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964357.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.769G>T",
"hgvs_p": "p.Ala257Ser",
"transcript": "ENST00000964358.1",
"protein_id": "ENSP00000634417.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 267,
"cds_start": 769,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964358.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.754G>T",
"hgvs_p": "p.Ala252Ser",
"transcript": "NM_001126132.3",
"protein_id": "NP_001119604.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 262,
"cds_start": 754,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126132.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.751G>T",
"hgvs_p": "p.Ala251Ser",
"transcript": "ENST00000964356.1",
"protein_id": "ENSP00000634415.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 261,
"cds_start": 751,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964356.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.751G>T",
"hgvs_p": "p.Ala251Ser",
"transcript": "ENST00000964359.1",
"protein_id": "ENSP00000634418.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 261,
"cds_start": 751,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964359.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.739G>T",
"hgvs_p": "p.Ala247Ser",
"transcript": "ENST00000964364.1",
"protein_id": "ENSP00000634423.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 257,
"cds_start": 739,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964364.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "NM_001126133.3",
"protein_id": "NP_001119605.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 251,
"cds_start": 721,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126133.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "NM_001291774.2",
"protein_id": "NP_001278703.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 251,
"cds_start": 721,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291774.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.718G>T",
"hgvs_p": "p.Ala240Ser",
"transcript": "ENST00000964361.1",
"protein_id": "ENSP00000634420.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 250,
"cds_start": 718,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964361.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Ala239Ser",
"transcript": "ENST00000964363.1",
"protein_id": "ENSP00000634422.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 249,
"cds_start": 715,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964363.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Ala238Ser",
"transcript": "ENST00000964365.1",
"protein_id": "ENSP00000634424.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 248,
"cds_start": 712,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964365.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Ala226Ser",
"transcript": "ENST00000964360.1",
"protein_id": "ENSP00000634419.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 236,
"cds_start": 676,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964360.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Ala199Ser",
"transcript": "ENST00000593194.5",
"protein_id": "ENSP00000467881.2",
"transcript_support_level": 2,
"aa_start": 199,
"aa_end": null,
"aa_length": 209,
"cds_start": 595,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593194.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.544G>T",
"hgvs_p": "p.Ala182Ser",
"transcript": "ENST00000585321.6",
"protein_id": "ENSP00000467980.2",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 192,
"cds_start": 544,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585321.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.544G>T",
"hgvs_p": "p.Ala182Ser",
"transcript": "ENST00000587465.6",
"protein_id": "ENSP00000464843.2",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 192,
"cds_start": 544,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587465.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Ala149Ser",
"transcript": "ENST00000588426.5",
"protein_id": "ENSP00000465991.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 159,
"cds_start": 445,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588426.5"
},
{
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{
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"verdict": "Uncertain_significance",
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],
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}
],
"message": null
}